Open-label, single arm, pilot study of intravenous laronidase following allogeneic transplantation for Hurler syndrome (Unbekannt)
- Neue Suche nach: Polgreen, Lynda E.
- Neue Suche nach: Lund, Troy C.
- Neue Suche nach: Eisengart, Julie
- Neue Suche nach: Miller, Weston
- Neue Suche nach: Orchard, Paul J.
- Neue Suche nach: Polgreen, Lynda E.
- Neue Suche nach: Lund, Troy C.
- Neue Suche nach: Eisengart, Julie
- Neue Suche nach: Miller, Weston
- Neue Suche nach: Orchard, Paul J.
In:
Molecular genetics and metabolism
;
123
, 2
;
S118
;
2018
-
ISSN:
- Aufsatz (Zeitschrift) / Print
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Titel:Open-label, single arm, pilot study of intravenous laronidase following allogeneic transplantation for Hurler syndrome
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Beteiligte:Polgreen, Lynda E. ( Autor:in ) / Lund, Troy C. ( Autor:in ) / Eisengart, Julie ( Autor:in ) / Miller, Weston ( Autor:in ) / Orchard, Paul J. ( Autor:in )
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Erschienen in:Molecular genetics and metabolism ; 123, 2 ; S118
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Verlag:
- Neue Suche nach: Elsevier Science B.V., Amsterdam
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Erscheinungsdatum:01.01.2018
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Format / Umfang:S118
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ISSN:
-
Medientyp:Aufsatz (Zeitschrift)
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Format:Print
-
Sprache:Unbekannt
- Neue Suche nach: 611.01816
- Weitere Informationen zu Dewey Decimal Classification
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Klassifikation:
DDC: 611.01816 -
Datenquelle:
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Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseasesSampayo-Cordero, Miguel / Miguel-Huguet, Bernat / Pardo-Mateos, Almudena / Moltó-Abad, Marc / Muñoz-Delgado, Cecilia / Pérez-López, Jordi et al. | 2018
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Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literatureVoorink-Moret, M. / Goorden, S.M.I. / van Kuilenburg, A.B.P. / Wijburg, F.A. / Ghauharali-van der Vlugt, J.M.M. / Beers-Stet, F.S. / Zoetekouw, A. / Kulik, W. / Hollak, C.E.M. / Vaz, F.M. et al. | 2018
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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapyMcIntosh, Paul T. / Hobson-Webb, Lisa D. / Kazi, Zoheb B. / Prater, Sean N. / Banugaria, Suhrad G. / Austin, Stephanie / Wang, Raymond / Enterline, David S. / Frush, Donald P. / Kishnani, Priya S. et al. | 2018
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Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalationDesai, Ankit K. / Walters, Crista K. / Cope, Heidi L. / Kazi, Zoheb B. / DeArmey, Stephanie M. / Kishnani, Priya S. et al. | 2018
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RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous systemOu, Li / Przybilla, Michael J. / Koniar, Brenda / Whitley, Chester B. et al. | 2018
- 112
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Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouseSaville, Jennifer T. / McDermott, Belinda K. / Fuller, Maria et al. | 2018
- 118
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Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type IIHoshina, Hiroo / Shimada, Yohta / Higuchi, Takashi / Kobayashi, Hiroshi / Ida, Hiroyuki / Ohashi, Toya et al. | 2018
- 123
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Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case seriesShapiro, Elsa / Ahmed, Alia / Whitley, Chester / Delaney, Kathleen et al. | 2018
- 127
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Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension studyHendriksz, Christian J. / Parini, Rossella / AlSayed, Moeenaldeen D. / Raiman, Julian / Giugliani, Roberto / Mitchell, John J. / Burton, Barbara K. / Guelbert, Norberto / Stewart, Fiona J. / Hughes, Derralynn A. et al. | 2018
- 135
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Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assayWolf, Pavlina / Alcalay, Roy N. / Liong, Christopher / Cullen, Emmaline / Pauciulo, Michael W. / Nichols, William C. / Gan-Or, Ziv / Chung, Wendy K. / Faulkner, Tina / Bentis, Christopher et al. | 2018
- 140
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Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in TaiwanLiao, Hsuan-Chieh / Hsu, Ting-Rong / Young, Leslie / Chiang, Chuan-Chi / Huang, Chun-Kai / Liu, Hao-Chuan / Niu, Dau-Ming / Chen, Yann-Jang et al. | 2018
- 148
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Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry diseaseNowak, Albina / Mechtler, Thomas P. / Hornemann, Thorsten / Gawinecka, Joanna / Theswet, Eva / Hilz, Max J. / Kasper, David C. et al. | 2018
- 154
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The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfaMac Lochlainn, Dylan J. / McKechnie, Douglas G.J. / Mehta, Atul B. / Hughes, Derralynn A. et al. | 2018
- 159
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Oculomotor abnormalities in children with Niemann-Pick type CBlundell, James / Frisson, Steven / Chakrapani, Anupam / Gissen, Paul / Hendriksz, Chris / Vijay, Suresh / Olson, Andrew et al. | 2018
- 169
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Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase geneVinje, Terje / Wierød, Lene / Leren, Trond P. / Strøm, Thea Bismo et al. | 2018
- 177
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Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and managementRoos, Jonathan C.P. / Daniels, Matthew J. / Morris, Elizabeth / Hyry, Hanna I. / Cox, Timothy M. et al. | 2018
- iii
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Table of Contents| 2018
- S2
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WORLDSymposium™ 2018 Introduction| 2018
- S7
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WORLDSymposium™ 2018 Program| 2018
- S15
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Using PEDI-CAT to assess functional capabilities in CLN3 (Batten) diseaseAdams, Heather R. / Augustine, Erika F. et al. | 2018
- S16
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Tubular dysfunction biomarkers in Fabry disease: better than albuminuria to identify patients at risk of nephropathy progressionAguiar, Patricio / Azevedo, Olga / Pinto, Rui / Marino, Jacira / Cardoso, Carlos / Soares, José Luís Ducla / Hughes, Derralynn et al. | 2018
- S21
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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: A review of published classified variants in the ARSB geneBailey, Mitch / Karageorgos, Litsa / Tomanin, Rosella / AlSayed, Moeenaldeen / Izzo, Emanuela / Miller, Nicole / Sakuraba, Hitoshi / Zanetti, Alessandra / Hopwood, John J. et al. | 2018
- S22
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Anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy undergoing general anesthesiaBascou, Nicholas A. / Marcos, Maria / Roosen-Marcos, Mercedes C. / Poe, Michele D. / Escolar, Maria L. et al. | 2018
- S23
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The intra-monocyte pharmacokinetics of imiglucerase suggests a possible personalization of enzyme replacement therapy in patients with GD1Berger, Marc G. / Berger, Juliette / Vigan, Marie / Pereira, Bruno / Froissart, Roseline / Belmatoug, Nadia / Dalbies, Florence / Masseau, Agathe / Rose, Christian / Serratrice, Christine et al. | 2018
- S24
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Interleukin-1 plays a central role in behaviour abnormalities in mucopolysaccharidosis type III (MPS III)Bigger, Brian W. / Holley, Rebecca / Ellison, Stuart / O'Leary, Claire / Pinteaux, Emmanuel / Boutin, Herve / Parker, Helen et al. | 2018
- S25
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Natural history of cardiac findings in mucopolysaccharidosis type I: Report from an international registryBraunlin, Elizabeth / Bay, Luisa / Guffon, Nathalie / Moy, Kristin / Yang, Meng / Pangaud, Nicolas / Clarke, Lorne et al. | 2018
- S26
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Guanidinylated neomycin conjugation enhances intranasal enzyme replacement in the brainBrown, Jillian R. / Tong, Wenyong / Dwyer, Chrissa A. / Thacker, Bryan E. / Glass, Charles A. / Hamill, Kristina / Moremen, Kelley W. / Sarrazin, Stéphane / Gordts, Philip L.S.M. / Patrick, Gentry et al. | 2018
- S28
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A comparison of three proposed methods of newborn screening for early infantile Krabbe diseaseCarter, Randy L. / Jalal, Kabir / Orsini, Joseph J. / Wrabetz, Lawrence / Barcyzkowski, Amy L. / Escolar, Maria L. / Biski, Chad K. / Langan, Thomas J. et al. | 2018
- S29
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Effect of ERT on autophagy and mitochondrial functions with Fabry diseaseChangsila, Erk / Ivanova, Margarita / Goker-Alpan, Ozlem et al. | 2018
- S31
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Exosome-based delivery of glucocerebrosidase lysosomal enzyme for treatment of Gaucher diseaseChoi, Kyungsun / Choi, Hojun / Yim, Nambin / Ryu, Seung-Wook / Choi, Chulhee et al. | 2018
- S32
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Qualitative research to characterize patients with galactosialidosisCimms, Tricia / Ali, Qais Abu / Kilgariff, Sarah / Johnson, Chloe / Arbuckle, Rob / Malkus, Betsy / Schatz, Andrea / Haller, Christine et al. | 2018
- S35
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Gender, mutations and residual enzymatic activity: Investigation of predictive factors of alpha-mannosidosis phenotypic presentation and of response to velmanase alfa long term enzyme replacement therapyDali, Christine I. / Borgwardt, Line / Lund, Allan M. / Cattaneo, Federica / Ardigò, Diego / Geraci, Silvia / Muschol, Nicole / Amraoui, Yasmina / Tylki-Szymanska, Anna / Wijburg, Frits et al. | 2018
- S36
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Gene therapy for the treatment of Niemann-Pick disease typeC1: Comparison of AAV9 to a novel serotype, AAV-PHP.BDavidson, Cristin / Gibson, Alana / Gu, Tansy / Chandler, Randy / Deverman, Benjamin / Gradinaru, Viviana / Venditti, Charles / Pavan, William et al. | 2018
- S37
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Initiation of enzyme replacement therapy for paediatric Fabry disease: Review of single centre practice and experienceDavison, James E. / Chakrapani, Anupam et al. | 2018
- S38
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Anti-rh-GAA antibodies does not influence late onset Pompe disease progressionDíaz-Manera, Jordi / Alonso-Jimenez, Alicia / Figueroa-Bonaparte, Sebastian / Gonzalez-Quereda, Lidia / Segovia, Sonia / Llauger, Jaume / Belmonte, Izaskun / Pedrosa, Irene / Carrasco, Ana / Nuñez-Peralta, Claudia et al. | 2018
- S39
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Neuronopathic Gaucher disease; patient association takes the lead to improve awareness and encourage collaborative workingDonald, Aimee / Hughes, Derralynn / Davies, Elin Haf / Collin-Histed, Tanya et al. | 2018
- S40
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Experience with two different enzyme replacement therapies in siblings with Fabry disease: 2 years follow up analysisDublán-García, Karen et al. | 2018
- S41
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Gaps and opportunities in MPS/ML for small rare disease companies to addressEkins, Sean / Klein, Jenny J. / Wood, Jill et al. | 2018
- S42
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Odiparcil is a promising substrate reduction therapy in MPS VI murine modelEntchev, Eugeni V. / Jantzen, Ingrid / Gawronski, Xavier / Feraille, Laurence / Luccarini, Jean-Michel / Abitbol, Jean-Louis / Junien, Jean-Louis / Broqua, Pierre / Tallandier, Mireille et al. | 2018
- S43
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Newborn screening for lysosomal diseases: The need for sex and gestational age dependent reference rangesEyskens, Francois et al. | 2018
- S44
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Identification of a novel GLA mutation in a family with classical phenotype of Fabry diseaseFerrer, Henrique Lage Ferreira / Pesquero, João Bosco / Varela, Patrícia / Aranda, Carolina / Martins, Ana Maria et al. | 2018
- S45
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Clinical and neurophysiological assessments of an infant with acute neurovisceral acid sphingomyelinase deficiencyFischetti, Jessica / Beal, Jules / Alali, Abdulrazak / Tocci, Laura / Schulman, Lisa / Kelly, Nicole / Wasserstein, Melissa et al. | 2018
- S46
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Early onset of the pathological phenotype in line 61 α-synuclein transgenic miceFlunkert, Stefanie / Auer, Ewald / Rabl, Roland / Duller, Stephan / Amschl, David / Neddens, Joerg / Niederkofler, Vera / Hutter-Paier, Birgit et al. | 2018
- S47
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Screening of Fabry disease in male hemodialysis patients: Prevalence and mutations found in ArgentinaFrabasil, Joaquin / Sokn, Silvia / Durand, Consuelo / Politei, Juan Manuel / Schenone, Andrea B. et al. | 2018
- S48
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Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up (case report)Furujo, Mahoko / Kosuga, Motomichi / Okuyama, Torayuki et al. | 2018
- S51
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High dose genistein aglycone in Sanfilippo syndrome: Results of a randomised, double-blinded, placebo controlled clinical trialGhosh, Arunabha / Rust, Stewart / Weisberg, Daniel / Canal, Maria / Wijburg, Frits A. / Vaz, Fred M. / Tylee, Karen L. / Church, Heather J. / Hepburn, Michelle / Bigger, Brian W. et al. | 2018
- S54
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Engineering blood stem cells for autologous transplants for lysosomal diseases: Correction of mucopolysaccharidosis type I using genome-edited hematopoietic stem and progenitor cellsGomez-Ospina, Natalia / Scharenberg, Samantha G. / Mantri, Sruthi / Nicolas, Carmencita / Bak, Rasmus Otkjaer Bak O. / Porteus, Matthew H. et al. | 2018
- S55
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Establishing the optimal tissue target for alpha-glucosidase gene delivery in Pompe diseaseGray, John T. / James, Lucy / Belle, Archana / Heffner, Garrett / Ton, Jennifer et al. | 2018
- S56
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Positive newborn screening results for late onset conditions: The clinician's dilemmaGupta, Punita / King, Lorien Tambini / Kulikova, Romana et al. | 2018
- S57
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Pregnancy outcome after exposure to migalastat: A case studyHaninger-Vacariu, Natalja / El-Hadi, Sarah / Pauler, Udo / Foretnik, Marina / Kain, Renate / Schmidt, Alice / Skuban, Nina / Barth, Jay A. / Sunder-Plassmann, Gere et al. | 2018
- S59
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Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editingHarmatz, Paul / Muenzer, Joseph / Burton, Barbara K. / Ficicioglu, Can / Lau, Heather A. / Leslie, Nancy D. / Conner, Edward / Foo, Cheryl Wong Po / Vaidya, Sagar A. / Wechsler, Thomas et al. | 2018
- S60
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Lysosomal glucocerebrosidase inhibition is associated with perturbed dopamine turnover: a mechanistic insight into the link between Gaucher and Parkinson diseaseHeales, Simon / Burke, Derek G. / Eaton, Simon / De La Fuente Barrigon, Carmen et al. | 2018
- S61
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Pharmacokinetics, pharmacodynamics, and safety of moss agalactosidase A in patients with Fabry diseaseHennermann, Julia B. / Arash-Kaps, Laila / Fekete, György / Schaaf, Andreas / Busch, Andreas / Frischmith, Thomas et al. | 2018
- S63
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Proposal of a rating scale to recognize Fabry disease in patients with nonspecific gastrointestinal symptomsHilz, Max J. / Arbustini, Eloisa / Dagna, Lorenzo / Gasbarrini, Antonio / Goizet, Cyril / Lacombe, Didier / Liguori, Rocco / Manna, Raffaele / Politei, Juan / Spada, Marco et al. | 2018
- S64
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Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: An international cohort studyHollak, Carla E. / Arends, Maarten / Wanner, Christoph / Sirrs, Sandra / Mehta, Atul / Elliott, Perry / Oder, Daniel / Watkinson, Oliver / Bichet, Daniel / Khan, Aneal et al. | 2018
- S65
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A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patientsHopkin, Robert J. / Germain, Dominique P. / Bichet, Daniel G. / Gruskin, Daniel J. / Lemay, Roberta M. / Oliveira, João P. / Politei, Juan M. / Wanner, Christoph / Wilcox, William R. / Yoo, Han-Wook et al. | 2018
- S66
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Characterization of CRISPR-Cas9 generated Pompe disease modelsHuang, Jeffrey Y. / Grover, Abhinav / Rangel, Anthony D. / Wang, Raymond Y. et al. | 2018
- S67
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Pegunigalsidase alfa, a novel PEGylated ERT for Fabry disease: Two-year safety and efficacy follow upHughes, Derralynn / Giraldo, Pilar / Holida, Myrl / Goker-Alpan, Ozlem / Maegawa, Gustavo / Schiffmann, Raphael / Alon, Sari / Filipovich, Margarita / Szlaifer, Mali / Brill-Almon, Einat et al. | 2018
- S68
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A novel glycotechnology to produce human lysosomal enzymes carrying synthetic N-glycans with terminal mannose 6-phosphate residues and application to enzyme placement therapy for lysosomal diseasesItoh, Kohji / Nishioka, So-Ichiroh / Kobayashi, Isao / Matsuzaki, Yuji / Iino, Kenta / Nadanaka, Satomi / Kasashima-Sumitani, Megumi / Hidaka, Tomo / Tsuji, Daisuke / Sezutsu, Hideki et al. | 2018
- S69
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Laboratory reliability and validity for measuring psychosine concentration and GALC enzyme activity for use in newborn screening for Krabbe diseaseJalal, Kabir K. / Langan, Thomas J. / Orsini, Joseph / Gelb, Michael / Matern, Dieter / Barczykowski, Amy L. / Escolar, Maria / Carter, Randy et al. | 2018
- S70
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Efficacy of systemic messenger RNA therapy to treat and prevent porphyria attacks in animal models of acute intermittent porphyriaJiang, Lei / Berraondo, Pedro / Guey, Lin / Sampedro, Ana / Frassetto, Andrea / Benenato, Kerry / Kalariya, Mayur / Sabnis, Staci / Salerno, Timothy / Kumarasinghe, Ellalahewage et al. | 2018
- S71
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First-in-human preliminary pharmacokinetic data on a novel recombinant acid α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in patients with late-onset Pompe diseaseJohnson, Franklin K. / Bratkovic, Drago / Byrne, Barry / Clemens, Paula R. / Goker-Alpan, Ozlem / Geberhiwot, Tarakegn / Kishnani, Priya / Ming, Xue / Mozaffar, Tahseen / Roberts, Mark et al. | 2018
- S72
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Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD)Jones, Simon A. / AlSayed, Moeenaldeen / Broomfield, Alexander A. / White, Fiona / Roberts, Jane / Vijay, Suresh / Wu, Hoi-Yee / de las Heras, Javier / Church, Heather / Van Spronsen, Francjan J. et al. | 2018
- S73
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Integrated quantitative systems pharmacology (QSP) model of lysosomal diseases provides an innovative computational platform to support research and therapeutic development for the sphingolipidosesKaddi, Chanchala / Reali, Federico / Marchetti, Luca / Niesner, Bradley / Parolo, Silvia / Simoni, Giulia / Zaph, Susana / Tao, Mengdi / Abrams, Ruth / van Rijn, Zachary et al. | 2018
- S74
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Blood and brain biomarkers of oxidative stress and inflammation in type 1 Gaucher disease: Effect of antioxidant therapyKartha, Reena V. / Joers, James / Terluk, Marcia / Tuite, Paul / Mishra, Usha / Rudser, Kyle / Oz, Gulin / Utz, Jeanine Jarnes / Cloyd, James C. et al. | 2018
- S75
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Effects of psychosine-reducing agents in the twitcher murine model for Krabbe diseaseKatabuchi, Asaka / Godoy, Vivian / Shil, Priya / Maegawa, Gustavo et al. | 2018
- S77
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Diagnosis of Fabry disease in a patient with end stage renal disease on hemodialysis: A case reportKim, Jin Sug / Lee, Yu Ho / Jung, Su Woong / Jeong, Kyung Hwan / Lee, Tae Won / Kim, Yang Gyun / Moon, Ju Young / Lee, Sang Ho / Ihm, Chun Gyoo et al. | 2018
- S78
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Variable clinical features in Fabry disease in patients with novel mutationsKimonis, Virginia / Curtin, Emily / Tapia, Daisy / Hall, Kathryn / Alandy-Dy, Jousef / Knight, Margaret / Pahl, Madeleine / Lombardo, Dawn et al. | 2018
- S79
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Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERTKoeberl, Dwight / Case, Laura / Smith, Edward C. / Li, Yanzhen / Walters, Crista / Hornik, Christoph / Thurberg, Beth / Bali, Deeksha / Bursac, Nenad / Kishnani, Priya S. et al. | 2018
- S80
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The D313Y mutation of the GLA gene could be pathogenic for Fabry diseaseKoulousios, Konstantinos / Pateinakis, Panagiotis / Manou, Eleni / Tegou, Zoi / Triantafyllou, Angeliki / Patsialas, Stavros / Loules, Gedeon / Zamanakou, Maria / Germenis, Anastasios E. et al. | 2018
- S81
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Open-label expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapyKuter, David J. / Wajnrajch, Michael / Hernandez, Betina / Tseng, Li-Jung / Chertkoff, Raul et al. | 2018
- S82
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Survey of quality of life, phenotypic expression and response to treatment in patients with Krabbe leukodystrophyLangan, Thomas J. / Barczykowski, Amy / Jalal, Kabir / Sherwood, Laura / Allewelt, Heather / Kurtzberg, Joanne / Carter, Randy L. et al. | 2018
- S83
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Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio syndrome type A: Results from the first year of a managed access agreement in EnglandLavery, Christine / Jones, Simon A. / Hughes, Derralynn / Murphy, Elaine / Jovanovic, Ana / Hendriksz, Christian J. / Cleary, Maureen / Geberhiwot, Tarekegn / Vijay, Suresh et al. | 2018
- S84
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Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion with enzyme replacement therapyLenders, Malte / Schmitz, Boris / Brand, Stefan-Martin / Foell, Dirk / Brand, Eva et al. | 2018
- S85
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Combination therapy increases lifespan and improves clinicobehavioral performance in the murine model of globoid cell leukodystrophyLi, Yedda / Shea, Lauren K. / Jiang, Xuntian / Gray, Steven J. / Ory, Daniel S. / Sands, Mark S. et al. | 2018
- S86
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The pros and cons of manipulating different pathways to address defective autophagy in Pompe diseaseLim, Jeong-A / Sun, Baodong / Puertollano, Rosa / Raben, Nina et al. | 2018
- S87
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The influence of zinc ion in measurement of leukocyte acid sphingomyelinase activityLin, Na / Hong, Xinying / Gelb, Michael / Wasserstein, Melissa / Yu, Chunli et al. | 2018
- S89
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Investigation of ERAD components in GAL A processing and therapeutic targeting of ERAD/proteostasis in Fabry diseaseLukas, Jan / Seemann, Susanne / Knospe, Anne-Marie / Cimmaruta, Chiara / Cubellis, Maria V. / Rolfs, Arndt et al. | 2018
- S90
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Post-transplant iduronidase attenuates skeletal disease in MPS IHLund, Troy C. / Miller, Weston P. / Raymond, Gerry V. / Tolar, Jakub / Lowe, Dawn / Lee, Gengyun / Orchard, Paul J. et al. | 2018
- S91
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Efficacy of Genz-682452-mediated inhibition of glucosylceramide synthase in a mouse model of Sandhoff diseaseMarshall, John / Nietupski, Jennifer B. / Bangari, Dinesh / Park, Hyejung / Randall, Kristen / Tietz, Drew / Wang, Bing / Wilper, Terry / Leonard, John P. / Cheng, Seng H. et al. | 2018
- S93
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Multimorbidity in type 1 Gaucher disease patients under miglustat therapyEngay, Blanca Medrano / Roy, Ana / Atutxa, Koldo / Diaz-Morant, Vicente / García-Frade, Javier / Hernández-Martín, Roberto / Luño, Elisa / Noya, Soledad / de la Serna, Javier / Villalón, Lucía et al. | 2018
- S94
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5-year longitudinal assessment of ocular manifestations in Fabry patientsMichaud, Langis et al. | 2018
- S96
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Presenting signs and symptoms of MPS: Results of an international physician surveyMitchell, John / Clarke, Lorne / Ellaway, Carolyn / Foster, Helen / Giugliani, Roberto / Goizet, Cyril / Goring, Sarah / Hawley, Sara M. / Jurecki, Elaina / Khan, Zaeem et al. | 2018
- S98
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Patient organisations working in partnership to research the patient experience of rare diseases: The MPS III surveyMorrison, Alex / Weigl, Michaela / Prӓhofer, Anna / Kunkel, Carmen / Friedel, Tabea / Theochari, Kate / Mamatis, Barbara / Joldic, Marija / Wiesbauer, Fredi / Cruz, Jordi et al. | 2018
- S99
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Efficacy and safety of intrathecal idursulfase in pediatric patients with mucopolysaccharidosis type II and early cognitive impairment: Design and methods of a controlled, randomized, phase II/III multicenter studyMuenzer, Joseph / Burton, Barbara K. / Harmatz, Paul / Gutiérrez-Solana, Luis González / Ruiz-Garcia, Matilde / Jones, Simon A. / Guffon, Nathalie / Inbar-Feigenberg, Michal / Bratkovic, Drago / Wu, Yuna et al. | 2018
- S100
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Early onset alpha-mannosidosis: A Turkish caseMungan, Neslihan / Yilmaz, Berna Seker / Kor, Deniz / Bulut, Derya / Kılavuz, Sebile / Erdem, Sevcan et al. | 2018
- S101
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Genetic testing for lysosomal disorders in a commercial laboratory: Use of pathognomonic criteria in variant interpretationMurillo, Laura / Harte, Rachel / Wong, Stacey / Ho, Yuan-Yuan / Beltran, Daniel / Fox, Michelle / White, Hannah / Winder, Tom / Johnson, Britt et al. | 2018
- S102
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In vivo enrichment of transduced cells to enhance gene therapy for Fabry diseaseNagree, Murtaza S. / Faber, Mary L. / Tate, Everett / Schroeder, Mark A. / DiPersio, John F. / Medin, Jeffrey A. et al. | 2018
- S103
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Disease epidemiology and prevalence of neurological manifestations in neuronopathic Gaucher disease: Comprehensive review of the literatureNalysnyk, Luba / Moon, Jungyoon / Oak, Bhagyashree / Brooks, Angeles et al. | 2018
- S105
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Renal outcomes with up to 9 years of migalastat in patients with Fabry disease: Results from an open-label extension studyNicholls, Kathleen / Giugliani, Roberto / Schiffmann, Raphael / Hughes, Derralynn A. / Jain, Vipul / Holdbrook, Fred / Skuban, Nina / Castelli, Jeffery P. / Barth, Jay A. et al. | 2018
- S106
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Proposed stages of phenotype development in cardiac Fabry disease: A prospective 182-patient study by cardiovascular magnetic resonanceNordin, Sabrina / Kozor, Rebecca / Baig, Shanat / Murphy, Elaine / Lachmann, Robin / Mehta, Atul / Edwards, Nicola C. / Ramaswami, Uma / Steeds, Richard P. / Hughes, Derralynn et al. | 2018
- S107
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Α-galactosidase activity increases after short-term treatment with migalastat in patients with Fabry diseaseNowak, Albina / Desnick, Robert J. et al. | 2018
- S108
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Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)Okur, Ilyas / Cleary, Maureen / de Castro Lopez, Maria Jose / Harmatz, Paul / Lee, Joy / Lin, Shaun-Pei / Couce, Maria Luz / Muschol, Nicole / Peters, Heidi / Villarreal, Martha Solano et al. | 2018
- S109
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In-silico assessment of a potential pharmacological chaperone for human GALNS: evaluation in a mutated protein modelOlarte-Avellaneda, Sergio / Almeciga-Diaz, Carlos Javier et al. | 2018
- S110
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Patient advocacy groups and industry collaborate to establish a distinct Sanfilippo syndrome (MPS III) facial phenotype for use in visual diagnostic toolO'Neill, Cara / Fleischer, Nicole / Wood, Jill et al. | 2018
- S112
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Proteomics and interactomics analysis of brain samples from MPS mice and patientsOu, Li / Przybilla, Michael / Whitley, Chester et al. | 2018
- S113
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Design, baseline characteristics, and early findings of the MPS IIIA (mucopolysaccharidosis type IIIA) clinical observational studyParker, Samantha / Olivier, Sophie / Drevot, Philippe / Chakrapani, Anupam / Heron, Benedicte / Giugliani, Roberto / Muschol, Nicole / Wijburg, Frits et al. | 2018
- S114
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The patient and clinician point of view: living with late-onset Pompe diseasePatel, Nita / Kishnani, Priya / Sathe, Swati / Dietze, Derek / Viereck, Christopher / Barth, Jay A. / Sitaraman, Sheela et al. | 2018
- S116
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Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate typePichard, Samia / Mercati, Oriane / Bouchereau, Juliette / Ouachee, Marie / Froissart, Roseline / Fenneteau, Odile / Roche, Bastien / Elmaleh, Monique / Bertrand, Yves / De Baulny, Hélène Ogier et al. | 2018
- S117
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Geographic distribution and possible origins of most frequent mutations observed in mucopolysaccharidosis type I patientsPoletto, Edina / Pasqualim, Gabriela / Giugliani, Roberto / Matte, Ursula / Baldo, Guilherme et al. | 2018
- S118
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Clinical, serum lyso-Gl3 and kidney histological findings in 14 pediatric patients with classic phenotype of Fabry disease: Is it possible a correlation?Politei, Juan / Alberton, Valeria / Amoreo, Oscar / Antongiovanni, Norberto / Aran, Maria Nieves / Baran, Marcelo / Cabrera, Gustavo / Di Pietrantonio, Silvia / Durand, Consuelo / Fainboim, Alejandro et al. | 2018
- S119
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Long term renal function in patients with Fabry diseasePolitei, Juan / Heguilen, Ricardo / Cabrera, Gustavo / Bernasconi, Amelia / Durand, Consuelo / Joaquin, Frabasil / Schenone, Andrea Beatriz et al. | 2018
- S120
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Cognitive abilities of dogs with mucopolysaccharidosis type I: Learning and memoryProvoost, Lena R. / Siracusa, Carlo / Che, Yan / Li, Mingyao / Casal, Margret L. et al. | 2018
- S121
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Chaperone therapy for mucopolysaccharidosis type IIICPshezhetsky, Alexey V. / Pan, Xuefang / Héon-Roberts, Rachel / Li, Shao-Gang / Wu, Harry Y. / Taherzadeh, Mahsa / De Aragão, Camila De Britto Pará / Wood, Jill / Ekins, Sean / Boyd, Robert et al. | 2018
- S122
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Treatment of Pompe disease with VAL-1221Ramsdell, Deborah et al. | 2018
- S124
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Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapyPacheco, Roberto Sandobal / Villanueva, Diana Espinosa / Salinas, Adriana Alcnatara / Romero Ramirez, Jorge A. / Galeana, Jose Antonio Vasquez / Perez Martinez, Ramon A. / Diaz, Pablo Radillo / Cabrera, Liliana Marcos et al. | 2018
- S125
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A 7-year quantitative neurological natural history in mucolipidosis type IVSchiffmann, Raphael / Svatkova, Alena / Wallace, Mary / Nguyen, Carol / Rodriguez-Rivera, Mari / Nestrasil, Igor et al. | 2018
- S126
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Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: Two year results from an ongoing multicenter extension studySchulz, Angela / Specchio, Nicola / Gissen, Paul / de los Reyes, Emily / Cahan, Heather / Slasor, Peter / Ajayi, Temitayo / Jacoby, David et al. | 2018
- S127
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Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type II: A case seriesSelvanathan, Arthavan / Ellaway, Carolyn / Wilson, Callum / Owens, Penny / Shaw, Peter / Bhattacharya, Kaustuv et al. | 2018
- S128
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Untreated patients with type 1 Gaucher disease: Who are they? Preliminary results from the Gaucher non- treated studySerratrice, Christine / Stirnemann, Jerome / Berrahal, Amina / Bengherbia, Monia / Belmatoug, Nadia / Camou, Fabrice / Berger, Marc et al. | 2018
- S129
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Abnormal GM2 accumulation alters the function of the autophagic pathway in early-onset Tay-Sachs disease mouse modelSeyrantepe, Volkan / Ates, Nurselin / Can, Melike / Sengul, Tugce / Demir, Secil Akyildiz et al. | 2018
- S130
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Α-Galactosidase A activity modulates DNA methylation of androgen receptor promoter in Fabry disease endothelial cellsShen, Jin-Song / Shigeyasu, Kunitoshi / Okugawa, Yoshinaga / Day, Taniqua / Schiffmann, Raphael / Goel, Ajay et al. | 2018
- S131
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Identification of a HEXB variant of unknown clinical significance in a family with Sandhoff diseaseSimmons, Morgan F. / Laney, Dawn et al. | 2018
- S132
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Compensatory responses to unexpected inspiratory loads are distinct from clinical tests of respiratory capacitySmith, Barbara / Allen, Shannon / Kugelmann, Elizabeth Lee / Martin, Daniel / Byrne, Barry J. et al. | 2018
- S133
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Combined therapy for type 3 Gaucher diseaseSoberon, Barbara C. / Escobar, Nicolas Fernandez / Basack, Nora / Detoni, Debora / Carrera, Sandra / Rodriguez, Manlio / Abraham, Zulma / De Matteo, Elena / Simon, Hayde / Schwery, Maya et al. | 2018
- S136
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Intrathecal laronidase administration and hematopoietic stem cell transplantation in an 11 months old infant with Hurler syndromeStumpfe, Katharina M. / Ulrich, Sebastian / Köhn, Anja F. / Müller, Ingo / Orchard, Paul J. / Muschol, Nicole M. et al. | 2018
- S137
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Systemic delivery of acid β-glucosidase by SapC-based nanovesicles for neuronopathic Gaucher disease therapySun, Ying / Liou, Benjamin / Chu, Zhengtao / Inskeep, Venette / Blackwood, Rachel / Peng, Yanyan / Davis, Harold W. / Qi, Xiaoyang et al. | 2018
- S138
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Kidney information network for disease research and education (KINDRED) abstract: Screening for Fabry disease among United States hemodialysis patientsThadhani, Ravi / Brock, Katherine / Kalim, Sahir / Block, Geoffrey / Sullivan, Dorothy / Ankers, Elizabeth et al. | 2018
- S140
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Diagnosis of mucopolysaccharidosesTomatsu, Shunji / Stapleton, Molly / Arunkumar, Nivethitha / Mason, Robert W. / Orii, Tadao et al. | 2018
- S141
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Two-year follow-up of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease type C1Truong, Nicole M. / Wang, Raymond Y. / Movsesyan, Nina et al. | 2018
- S142
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The 2-year follow-up results of lyso-GB3 levels in patients with Fabry diseaseTurkmen, Kultigin / Selcuk, Nedim Yılmaz / Tonbul, Halil Zeki / Baloglu, Ismail et al. | 2018
- S143
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Outcomes of newborn screening for Gaucher disease in IllinoisVucko, Erika et al. | 2018
- S144
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Sustained efficacy and safety of vestronidase alfa (rhGUS) enzyme replacement therapy in patients with MPS VIIWang, Raymond / da Silva Franco, José Francisco / Harmatz, Paul / López-Valdez, Jaime / Martins, Esmeralda / Reid Sutton, V. / Whitley, Chester B. / Chanda, Amanda / Song, Wenjie / Ali, Qais Abu et al. | 2018
- S145
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Enhanced pharmacokinetics profile of pegunigalsidase alfa (PRX-102) supports once-monthly 2mg/kg dosing for the treatment of Fabry diseaseWarnock, David G. / Charney, Martha R. / Hughes, Derralynn / Schiffmann, Raphael / Alon, Sari / Chertkoff, Raul / Brill-Almon, Einat et al. | 2018
- S146
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ZFN-mediated in vivo genome editing of hepatocytes results in phenotypic correction in murine MPS I and MPS II modelsWechsler, Thomas / DeKelver, Russell / Laoharawee, Kanut / Ou, Li / Tom, Susan / Radecke, Robert / Sproul, Scott / Koniar, Brenda L. / Podetz-Perdersen, Kelly / Cooksley, Renee D. et al. | 2018
- S147
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Final results of the first-in-human open-label study of intravenous SBC-103 in children with mucopolysaccharidosis type IIIBWhitley, Chester / Vijay, Suresh / Yao, Bert / Pineda, Mercé / Parker, Geoff / Cinar, Amy / Dai, Yang / Escolar, Maria L. et al. | 2018
- S148
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"Mission: hide and help": Sanfilippo syndrome awareness campaignWood, JIll et al. | 2018
- S149
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Combination of lysosphingomyelin, 7-ketocholesterol and bile acid W for diagnosis of Japanese patients with Niemann Pick disease type C by MS/MSWu, Chen / Iwamoto, Takeo / Yanagisawa, Hiroko / Akiyama, Keiko / Miyajima, Takashi / Igarashi, Junko / Hossain, Mohammad A. / Eto, Yoshikatsu et al. | 2018
- S150
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Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in TaiwanYang, Chia-Feng / Hung, Chu Tzu / Liao, Hsuan-Chieh / Huang, Ling-Yi / Chiang, Chuan-Chi / Ho, Hui-Chen / Lai, Chih-Jou / Yang, Tsui-Feng / Hsu, Ting-Rong / Soong, Wen-Jue et al. | 2018
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Author Index| 2018
- S170
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Keyword Index| 2018
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Transcriptome analysis in muscle biopsies of late-onset Pompe patients treated with alglucosidase alfa or neoGAAZhang, Mindy / Chang, Yi-Chien / Han, Mei / Palmer, Rachel / Baek, Rena / Madden, Stephen / Klinger, Katherine et al. | 2018
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Psychosine: A useful biomarker for newborn screening, follow up and monitoring of Krabbe diseaseTurgeon, Coleman / White, Amy / Peck, Dawn / Pino, Gessi Bentz / Studinksi, April / Orsini, Joseph J. / Gelb, Michael / Christine Dorley, M. / Pellegrino, Joan / Sakonju, Ai et al. | 2018
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In Anderson-Fabry disease can early improvement in eGFR predict prognosis over 5 years?Warwick, Allison L. et al. | 2018
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Comparison of GLA variants of unknown significance and the specific mutations causing moderate Fabry diseaseTsukimura, Takahiro / Shigenaga, Masashi / Saito, Seiji / Togawa, Tadayasu / Sakuraba, Hitoshi et al. | 2018
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Spectrum of GBA mutations in a group of Colombian families with Gaucher diseaseSuarez-Obando, Fernando / Guatibonza, Pilar / Zarante, Ana et al. | 2018
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Clinical outcomes and brain metabolites in patients with late onset Tay-Sachs and Sandhoff diseaseTifft, Cynthia J. / Wang, Camille / Johnston, Jean / Alter, Katherine / Wiggs, Edythe / Solomon, Beth I. / Wahl, Colleen E. / Nehrebecky, MIchele / Godfrey, Rena / Latham, Lea et al. | 2018
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Ten years of migalastat treatment in a patient with Fabry disease: A case reportSwift, Caren / Schiffmann, Raphael / Williams, Hadis / Barth, Jay A. / Skuban, Nina / Castelli, Jeffrey P. et al. | 2018
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Pilot enzyme replacement therapy with recombinant human glucosamine (N-acetyl)-6-sulfatase in mucopolysaccharidosis type IIID mouse modelSauni, Chelsee T. / Wang, Feng / Kan, Shih-hsin / Le, Steven Q. / Anderson, Betty / Wood, Jill / Ekins, Sean / Chou, Tsui-Fen / Dickson, Patricia et al. | 2018
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Intravitreal enzyme replacement therapy attenuates retinal disease progression in a canine model of neuronal ceroid lipofuscinosis type 2 (CLN2)Sinclair, John / Whiting, Rebecca / Robinson, Grace / Bibi, Katherine / Nguyen, Annailsa / Cherukuri, Anu / Henshaw, Joshua / De Hart, Gregory / Chandra, Sundeep / O'Neill, Chuck et al. | 2018
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Evaluation of glucosyl ceramide synthase (GCS) inhibition for GBA-associated Parkinson diseaseJudith Peterschmitt, M. / Pablo Sardi, S. / Shihabuddin, Lamya S. / Rudin, Dan / Sharma, Jyoti / Araujo, Roberto / Li, Jian / Fischer, Tanya Z. et al. | 2018
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Novel lysosomal disease in a juvenile golden retrieverSmith, Jodi / Harm, Tyler / LeVine, Dana / Christopher, Scott / Hostetter, Shannon / Snella, Elizabeth M. / Johnson, Gary / Matthew Ellinwood, N. et al. | 2018
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Neuroradiological brain phenotype in mucopolysaccharidosis type II patients from 5 European countriesNestrasil, Igor / Nguyen, Carol / Vaneckova, Manuela / Burgetova, Andrea / Murgasova, Lenka / Zeman, Jiri / Ramadza, Danijela Petković / Baric, Ivo / Almassy, Zsuzsanna / Jurickova, Katarina et al. | 2018
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Three-year evaluation of intravenous and intrathecal treatment with HP-β-CD in a patient with Niemann-Pick disease type C1Movsesyan, Nina / Ory, Daniel S. / Wang, Raymond Y. et al. | 2018
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Optic nerve capillaries blood oxygenation investigation in Fabry disease patientsMichaud, Langis / Diaconu, Vasil / Forcier, Pierre et al. | 2018
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Confirmatory assays for alpha-glucosidase enzymatic values using glycogen: An improving test for the diagnosis of Pompe diseaseArdila, Alfredo Uribe / Rendón, John Gamba / Silva, Patricia Moreno et al. | 2018
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Factors influencing patient preferences for oral versus intravenous (IV) enzyme replacement medicationKaraa, Amel / Zeitels, Lauren / Clarke, Virginia et al. | 2018
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MPS VII mice display reduced circulating IGF1 and disrupted cell cycle progression in the growth plateJiang, Zhirui / Derrick-Roberts, Ainslie L.K. / Byers, Sharon et al. | 2018
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Profile of natural history in 104 patients with mucopolysaccharidosis type II: Insights from the Hunter Outcome Survey (HOS)Jones, Simon / Burton, Barbara K. / Botha, Jaco / Whiteman, David A.H. et al. | 2018
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Methylation study of CpG islands in GLA gene: best clinical phenotype predictor for heterozygous Fabry femaleHossain, Mohammad A. / Wu, Chen / Miyajima, Takashi / Yanagisawa, Hiroko / Akiyama, Keiko / Itagaki, Rina / Iwamoto, Takeo / Eto, Yoshikatsu et al. | 2018
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Do we understand the pathophysiology of gastrointestinal symptoms in patients with Fabry disease?Hilz, Max J. / Arbustini, Eloisa / Dagna, Lorenzo / Gasbarrini, Antonio / Goizet, Cyril / Lacombe, Didier / Liguori, Rocco / Manna, Raffaele / Politei, Juan / Spada, Marco et al. | 2018
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Intravenous and intranasal genome editing using the CRISPR/Cas9 system leads to long-term improvements in MPS I miceSchuh, Roselena S. / Poletto, Edina / Rodrigues, Graziella / Vieira, Camila / Meyer, Fabíola S. / Giugliani, Roberto / Matte, Ursula / Teixeira, Helder F. / Baldo, Guilherme et al. | 2018
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The D313Y variant in the GLAgene - no evidence of a pathogenic role in Fabry disease in 2 Danish familiesFeldt-Rasmussen, Ulla / Hasholt, Lis / Ballegaard, Martin / Christiansen, Michael / Law, Ian / Lund, Allan / Noerremoelle, Anne / Ravn, Kirstine / Rasmussen, Aase K. / Tuemer, Zeynep et al. | 2018
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Identification of a novel mutation in the α-galactosidase A gene in a large family using NGS platformFurtak, Vyacheslav / Ivanova, Margarita / Goker-Alpan, Ozlem et al. | 2018
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Impaired mitophagy causes brown adipose tissue activation and cachexia in Sanfilippo syndrome type A miceEsko, Jeffrey D. / Dwyer, Chrissa A. / Kan, Shih-Hsin / Al-Azzam, Norah / Thacker, Bryan / Glass, Charles A. / Dickson, Patricia / Wang, Raymond / Gordts, Philip L.S.M. et al. | 2018
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Pathological hallmarks of the Gaucher disease mouse model 4L/PS-NAFlunkert, Stefanie / Auer, Ewald / Mugica, Estibaliz Santiago / Schiffer, Victoria / Farcher, Martina / Niederkofler, Vera / Rabl, Roland / Posch, Maria / Neddens, Joerg / Hutter-Paier, Birgit et al. | 2018
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Enabling redosing of AAV by immune management in Pompe disease: Preclinical to clinical studiesCorti, Manuela / Cleaver, Brian / Clement, Nathalie / Wang, Genscheng / Benson, Janet / Tarantal, Alice / Herzog, Roland / Byrne, Barry et al. | 2018
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Neuronal network dysfunction in juvenile neuronal lipofuscinosisAhrens-Nicklas, Rebecca / Tecedor, Luis / Banwell, Emma / Lysenko, Elena / Davidson, Beverly / Marsh, Eric et al. | 2018
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Progranulin stabilizes hexosaminidase A and is therapeutic in Tay-Sachs diseaseJian, Jinlong / Chen, Yuehong / Liu, Chuanju et al. | 2018
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Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expressionShen, Jin-Song / Meng, Xing-Li / Erland, Arning / Day, Taniqua / Jabbarzadeh-Tabrizi, Siamak / Ziegler, Robin / Bottiglieri, Teodoro / Cheng, Seng / Schiffmann, Raphael et al. | 2018
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Toe walking in the mucopolysaccharides: Does it matter?Wood, Michelle / Cleary, Maureen A. / Eastwood, Deborah M. et al. | 2018
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For a patient of unidentified cardiomyopathy, NGS (nest gene sequense analysis) was useful for a diagnosis for Fabry diseaseYamakawa, Hiroyuki / Aisawa, Yoshiyasu / Yuasa, Shinsuke / Tsukimura, Takahiro / Ukawa, Tadayashu / Sakuraba, Hitoshi / Sano, Motoaki / Fukuda, Keiichi et al. | 2018
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Phenotype-based latent class clustering of GBA1mutation carriers with and without Parkinson diseaseSteward, Alta M. / Koehly, Laura / Lindstrom, Taylor / Trivedi, Niraj / Monestime, Gianina / Kim, Jenny / Tayebi, Nahid / Sidransky, Ellen / Lopez, Grisel et al. | 2018
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Utilizing CRISPR/Cas9 genome editing to generate a novel murine model of GM1 gangliosidosisPrzybilla, Michael J. / Ou, Li / Whitley, Chester B. et al. | 2018
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Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive yearsPuga, Ana C. / Hamed, Alaa / Kissell, Julie / Minini, Pascal / Pabla, Anureet K. / Kahn, Susan / Eichler, Florian / Stephen, Christopher D. / Tifft, Cynthia J. / Toro, Camilo et al. | 2018
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Defining clinical measures of skeletal disease severity in mucopolysaccharidosis type IPolgreen, Lynda E. / White, Klane / Rudser, Kyle D. / Menk, Jeremiah S. / Miller, Bradley S. / Fung, Ellen / Eisengart, Julie / Lund, Troy C. / Orchard, Paul J. et al. | 2018
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Establishing genotype-phenotype corrleation of lysosomal diseases with in silico toolsOu, Li / Przybilla, Michael / Whitley, Chester et al. | 2018
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Hypertransaminasaemia in children with mucopolysaccharidosesOsipova, Liliya A. / Kuzenkova, Ludmila M. / Podkletnova, Tatyana V. / Namazova-Baranova, Leyla S. / Semikina, Elena L. et al. | 2018
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Expanded analysis of Lyso-GB3 analogues and correlation with total Lyso-GB3 and Fabry status in 59 clinical patientsNetzel, Brian / Gavrilov, Dimitar / Matern, Dietrich / Oglesbee, Devin / Raymond, Kimiyo / Rinaldo, Piero / Tortorelli, Silvia / Schultz, Matthew et al. | 2018
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Cukurova University experience of lysosomal diseases in adulthood: Report of 57 patientsMungan, Neslihan / Bulut, Fatma Derya / Şeker-Yılmaz, Berna / Kılavuz, Sebile / Kör, Deniz / Koç, Filiz / Gürkan, Emel / Paydaş, Saime / Güvenç, Birol / Atmış, Bahriye et al. | 2018
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Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwideMole, Sara E. / Gardner, Emily / Schulz, Angela / Xin, Winnie W. et al. | 2018
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Mucopolysaccharidosis type VI, 9 sibling pairs and 1 set of three siblings: single center experience from TurkeyMungan, Neslihan / Bulut, Fatma Derya / Kör, Deniz / Seker-Yılmaz, Berna / Kılavuz, Sebile / Onan, Bilen / Başaran, Sibel / Beşen, Şeyda / Dağkıran, Muhammed / Demir, Fadli et al. | 2018
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Diagnostic challenges for Pompe disease newborn screening in a pre-term infantValerie Marrero-Stein, M. / Kronn, David et al. | 2018
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Selective large scale screening for lysosomal disorders in minority groups shows higher incidence ratesLimgala, Renuka P. / Changsila, Erk / Tran, Linh / Aman, Hana M. / Wilks, Floyd / Fidelia-Lambert, Marie N. / Gondré-Lewis, Marjorie C. / Goker-Alpan, Ozlem et al. | 2018
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Aberrant heparan sulphate impairs mesenchymal stem cell proliferation and neurogenesis in mucopolysaccharidosis type IIIALehmann, Rebecca / Selway, Caitlin / Byers, Sharon / Roberts, Ainslie Derrick et al. | 2018
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Response to omalizumab in a patient with Pompe diseaseKronn, David / Stein, Valerie Marrero / Siegel, Subhadra et al. | 2018
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Variable clinical features and progression in 18 patients with Pompe diseaseKimonis, Virginia / Alandy-dy, Jousef / Wencel, Marie / Hall, Kathy / Chen, Alice / Bali, Deeksha / Goyal, Namita / Mozaffar, Tahseen et al. | 2018
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Menarche, menopause, and pregnancy data in untreated females and females treated with agalsidase alfa in the Fabry Outcome SurveyHughes, Derralynn / Romero, Miguel-Ángel Barba / Gurevich, Andrey / Engrand, Patrick / Giugliani, Roberto et al. | 2018
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Clinical variability of GM1 gangliosidosisHennermann, Julia B. / Seegräber, Marlene / Amraoui, Yasmina / Gökce, Seyfullah / Reinke, Jörg / Dieckmann, Andrea / Smitka, Martin / Beblo, Skadi / Mengel, Eugen / Paschke, Eduard et al. | 2018
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Safety of enzyme replacement therapy to treat Hunter syndrome in children aged 5 years and underGrant, Nathan / Bailey, Laurie / Prada, Carlos et al. | 2018
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Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type IGiugliani, Roberto / Giugliani, Luciana / Corte, Amauri Dalla / Poswar, Fabiano / Donis, Karina / Schmidt, Mathias / Hunt, Douglas / Boado, Ruben J. / Pardridge, William M. et al. | 2018
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Pharmacology of BMN 250 administered via intracerebroventricular infusion once every 2 weeks for twenty-six weeks or longer in a canine model of mucopolysaccharidosis type IIIBMatthew Ellinwood, N. / Valentine, Bethann / Hess, Andrew S. / Jens, Jackie K. / Snella, Elizabeth M. / Ware, Wendy A. / Hostetter, Shannon J. / Ben-Shlomo, Gil / Jeffery, Nicholas / Safayi, Sina et al. | 2018
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Neurocognitive outcomes of intrathecal enzyme replacement therapy and transplant in Hurler syndromeEisengart, Julie B. / Miller, Weston / Kaizer, Alex / Rudser, Kyle / King, Kelly / Ziegler, Richard S. / Pierpont, Elizabeth / Whitley, Chester / Raymond, Gerald / Tolar, Jakub et al. | 2018
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An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe diseaseDesai, Ankit K. / Kazi, Zoheb B. / Erwin, Angelika / Troxler, Bradley / Kronn, David / Packman, Seymour / Sabbadini, Marta / Nuoffer, Jean-Marc / Weisfield-Adams, James / Rizzo, William et al. | 2018
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Dilated cardiomyopathy at presentation of mucopolysaccharidosis type IH (Hurler syndrome): Clinical characteristics and management outcomeDavison, James E. / Toledano, Maria / Simmonds, Jacob / Cleary, Maureen A. et al. | 2018
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Chondrogenesis and osteogenesis are delayed by MPS IVA keratan sulphate but not normal keratan sulphateByers, Sharon / Vaidyanathan, Srimayee / Derrick-Roberts, Ainslie L.K. et al. | 2018
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Glucosylsphingosine concentration is the most reliable response-parameter for low-dose ERT in homozygous N370S Gaucher patientsArkadir, David / Dinur, Tama / Revel-Vilk, Shoshana / Cohen, Michal Becker / Cozma, Claudia / Hovakimyan, Marina / Eichler, Sabrina / Rolfs, Arndt / Zimran, Ari et al. | 2018
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Simple fluorimetric test for lysosomal swelling as a means to identify, monitor and develop therapies for all lysosomal diseasesAlshehri, Abdullah S. / Haslett, Luke J. / Waller-Evans, Helen / Lloyd-Evans, Emyr et al. | 2018
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A variant of GM1 gangliosidosis in a sheep modelAhern-Rindell, Amelia et al. | 2018
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Osteopenia in Egyptian Gaucher disease type 3 patients: An 11 year prospective studyAbdelwahab, Magy / Kaplan, Paige et al. | 2018
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Association between genotype, phenotype, and heat map assessments post enzyme replacement therapy in a highly heterogeneous MPS VII study populationAli, Qais Abu / Song, Wenjie / Cimms, Tricia / Chen, Chao-Yin / Daugherty, Sean / Whitley, Chester B. / Wang, Raymond / Bauer, Mislen / Harmatz, Paul / Haller, Christine et al. | 2018
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Characterization of N409H/R535H (N370S/R496H) genotype in type 1 Gaucher diseaseZeid, Natasha / Stauffer, Chanan / Yang, Amy / Balwani, Manisha et al. | 2018
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CLN2 disease (neuronal ceroid lipofuscinosis type 2): Experience in the real world with cerliponase alfa intracerebroventricular enzyme replacement therapy in a public hospital in Cordoba, ArgentinaSeratti, Guillermo / Munoz, Victor / Guelbert, Norberto / Jalil, Raul / Velazquez, Daniel / Pueyrredon, Francisco / Guelbert, Guillermo / Caraballo, Roberto / Rodrigo, Tatiana et al. | 2018
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Fabry disease presentation in a heterozygote female patientRastogi, Prerna / Holida, Myrl / Thomas, Christie et al. | 2018
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Plasma pharmacokinetics of a human insulin receptor antibody-iduronidase fusion protein in patients with mucopolysaccharidosis type IPardridge, William M. / Boado, Ruben J. / Giugliani, Roberto / Schmidt, Mathias et al. | 2018
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Metabolomics profiling of mice and patients with Sandhoff disease to identify biomarkersOu, Li / Przybilla, Michael / Whitley, Chester et al. | 2018
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Five years of clinical data in a direct to CNS gene therapy trial to address the severe lethal neurological manifestations of MPS IIIAOlivier, Sophie / Le Meur, Alice / Deiva, Kumaran et al. | 2018
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Novel blood-brain barrier delivery system to treat CNS in MPS II: First clinical trial of anti-transferrin receptor antibody fused enzyme therapyOkuyama, Torayuki / Sakai, Norio / Yamamoto, Tatsuyoshi / Yamaoka, Mariko / Tomio, Teiji et al. | 2018
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Validation of a novel MS/MS-based dried blood assay for the assessment of arylsulfatase B and N-acetylgalactosamin-6-sulfatase activitiesMurko, Simona / Wessels, Cristiaan / Kasper, David / Lukacs, Zoltan et al. | 2018
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Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screeningMistri, Mehul A. / Dalal, Ashwin / Nath, Payal / Nampoothiri, Sheela / Mehta, Sanjeev / Singh, Ankur / Sheth, Frenny / Sheth, Jayesh et al. | 2018
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Implementation of internal quality control for the determination of the activity of lysosomal enzymes in dried blood samplesMoreno, Patricia / Ardila, Alfredo Uribe et al. | 2018
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Effect of two different therapeutic interventions: SRT in comparison to ERT on immune aspects and bone involvement in Gaucher diseaseLimgala, Renuka P. / Arnone, Miriam / Goker-Alpan, Ozlem et al. | 2018
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A thorough autonomy assessment of individuals with Hurler syndrome who survive into adulthood: A feasibility study using the Independent Living Study (ILS)Lewis, Sarah G. / Diethelm-Okita, Brenda / Erickson, David C.C. / Whitley, Chester B. et al. | 2018
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Pharmacogenetic study in type 1 Gaucher disease patientsGiraldo, Pilar / Almeida, Alberto / de Frutos, Laura Lopez / Medrano-Engay, Blanca / Ribate, Pilar / Andrade-Campos, Marcio et al. | 2018
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Enzyme replacement therapy for late-onset Pompe disease: A systematic reviewDornelles, Alícia D. / Kisak, William O.T. / Gertsenchtein, Guilherme I.P.S. / Schwartz, Ida V.D. et al. | 2018
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ConnectMPS registry project: Connecting mucopolysaccharidosis and mucolipidosis patientsDant, Mark / Wood, Jill / Sideman, Stuart / Miller, Vanessa Rangel / Vidal, Jo Anne et al. | 2018
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Gaucher disease: French registry cohort of 58 patients treated with eliglustatCamou, Fabrice / Bengherbia, Monia / Verstuyft, Céline / Stirnemann, Jérôme / Belmatoug, Nadia / Berger, Marc G. et al. | 2018
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Association of hippocampus and amygdala volumes with neurocognitive and behavioral outcomes in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutationAhmed, Alia / Shapiro, Elsa / Rudser, Kyle / Nestrasil, Igor / Whitley, Chester et al. | 2018
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Spectrum of lysosomal disorders at a medical genetics center in the central part of the United StatesWang, Hua / Wierenga, Klaas et al. | 2018
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Phenotypic characterization of sialidosis type I: A prelude to therapeutic interventionsToro, Camilo / Groden, Catherine / Johnston, Jean M. / Khan, Omar / Albert, Julie / Lehky, Tanya / FitzGibbon, Edmond J. / Tifft, Cynthia J. / D'Azzo, Alessandra et al. | 2018
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In silico and in vitro analysis of a novel GLA missense mutation in patients with severe renal involvementVarela, Patricia / Kirsztajn, Gianna / Wallbach, Krissia / da Mata, Gustavo / Moura, Luiz / Moreira, Silvia / Mendes, Carmen / Curiati, Marco / D'Almeida, Vania / Martins, Ana Maria et al. | 2018
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Screening for biomarkers of Farber disease using C26 using mass spectrometryRolfs, Arndt / Iurascu, Marius / Hovakimyan, Marina / Zielke, Susanne / Cozma, Claudia et al. | 2018
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In vitro osteoclast differentiation correlates with bonemineral density in Gaucher disease patientsMucci, Juan M. / Bondar, Constanza M. / Crivaro, Andrea / Ormazabal, Maximiliano E. / Oliveri, Beatriz / Gonzales, Diana / Rozenfeld, Paula A. et al. | 2018
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ThinkGenetic: A pilot project to create an educational website/application providing increased access to information on accurate natural history, diagnosis, and treatment information with treatable genetic disorders to healthcare providersLaney, Dawn A. / Simmons, Morgan et al. | 2018
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Does infusion time have effect on the efficacy of the enzymeWalls, Susanne / Rainto, Miia / Kantola, Ilkka et al. | 2018
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Long-term treatment response based on severity of Gaucher disease type 1 at baseline after 8 years of treatment with oral eliglustat: Final efficacy and safety results from a phase 2 clinical trial in treatment-naïve adult patientsLau, Heather A. / Lukina, Elena / Watman, Nora / Dragosky, Marta / Arreguin, Elsa Avila / Rosenbaum, Hanna / Wu, Yaoshi / Gaemers, Sebastiaan J.M. / Judith Peterschmitt, M. et al. | 2018
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New interaction between galectin-3 and cystinosin reveals a role of inflammation in kidney pathogenesis in cystinosisLobry, Tatiana / Miller, Roy / Nevo, Nathalie / Rocca, Celine J. / Gubler, Marie-Claire / Wilson, Cheung W. / Mak, Robert / Montier, Tristan / Antignac, Corinne / Cherqui, Stephanie et al. | 2018
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Deterioration in ECG parameters in Fabry females and males treated by enzyme replacement therapy either for 5 or 10 yearsKantola, Ilkka / Annala, Antti-Pekka / Ekstrand, Agneta / Helio, Tiina / Hietaharju, Aki / Kantola, Taru / Kananen, Kristiina / Karhu, Anne / Kokkonen, Jorma / Kuusisto, Johanna et al. | 2018
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Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS IHolmes, Elise / Bentler, Kristi / Gaviglio, Amy / Steyermark, Anthony / Ojodu, Jelili et al. | 2018
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Safety, efficacy, and immunogenicity of elosulfase alfa in patients with Morquio syndrome type A participating in 2 sequential open-label studies (MOR-002/MOR-100), representing 5 years of treatmentHendriksz, Christian / Santra, Saikat / Jones, Simon A. / Geberhiwot, Tarekegn / Jesaitis, Lynne / Long, Brian / Qi, Yulan / Hawley, Sara M. / Decker, Celeste et al. | 2018
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Translational dose-response and frequency scaling for BMN 250 administered via the intracerebroventricular route: Predicting a clinically effective dosing regimen from animal models of disease for the treatment of Sanfilippo syndrome type BGrover, Anita / McCullagh, Emma / Aoyagi-Scharber, Mika / Maricich, Stephen M. / Wait, Jill C.M. / Melton, Andrew / Zhou, Huiyu / Lawrence, Roger / Prill, Heather / Crawford, Brett et al. | 2018
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Mouse macrophage model of Gaucher disease for evaluating non-inhibitory chaperone candidatesGary, Sam E. / Aflaki, Elma / Berhe, Bahafta / Ory, Daniel / Sidransky, Ellen et al. | 2018
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Proteolytic immuno-SRM-MSMS in dried blood spots to determine immunogenicity in patients with infantile Pompe diseaseChang, Irene J. / Dayuha, Remwilyn / Lee, Jeongho / Jung, Sunhee / Jack, Rhona / Lam, Christina T. / Merritt, John Lawrence / Sun, Angela / Schoenherr, Regine M. / Whiteaker, Jeffrey R. et al. | 2018
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Biochemical and genetic characteristics of the largest worldwide Fabry cohort reported to presentCozma, Claudia / Iurascu, Marius I. / Oprea, Gabriela / Lukas, Jan / Zielke, Susanne / Rolfs, Arndt et al. | 2018
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Novel surgical reconstruction rescues life-threatening severe tracheal obstruction in mucopolysaccharidosis type IVATomatsu, Shunji / Pizarro, Christian / Averill, Lauren / Theroux, Mary et al. | 2018
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Can a mucopolysaccharidosis also be a primary immunodeficiency?Aranda, Carolina / Dantas, Ellen Oliveira / Dias, Natalia Vieira / Mazzucchelli, Juliana / Mallozi, Marcia / Wandalsen, Gustavo Falbo / Solé, Dirceu / Costa-Carvalho, Beatriz Tavares / Martins, Ana Maria et al. | 2018
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QCSI (quantitative chemical shift imaging) for assessment of bone marrow involvement in patients with Gaucher diseaseZimran, Ari / Becker-Cohen, Michal / Revel-Vilk, Shoshana / Maas, Mario / Dinor, Tama / Szer, Jeff et al. | 2018
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A next-generation Fabry enzyme replacement therapy: A proprietary human α-galactosidase A co-formulated with a pharmacological chaperone, AT1001, shows greater substrate reduction than standard of care in Fabry miceXu, Su / Schilling, Adriane / Gomez, Nestor / Frascella, Michelle / Garcia, Anandina / Hamler, Rick / Ellsworth, Daniel / Soska, Rebecca / Nair, Anju / Valle, Maria Cecilia Della et al. | 2018
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Hypoalbuminemia in children with mucopolysaccharidoses treated with valproateOsipova, Liliya A. / Kuzenkova, Ludmila M. / Podkletnova, Tatyana V. / Namazova-Baranova, Leyla S. / Semikina, Elena L. et al. | 2018
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Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD)Matern, Dietrich / Gavrilov, Dimitar / Oglesbee, Devin / Raymond, Kimiyo / Tortorelli, Silvia / Hart, Jeremy / Mott, Lea / Kurtzberg, Joanne / Prasad, Vinod / Rinaldo, Piero et al. | 2018
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Discovery study for new genetic variants related to Niemann-Pick disease type Cde Frutos, Laura López / Cebolla, Jorge J. / Irún, Pilar / Giraldo, Pilar et al. | 2018
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Novel pathogenic GLA mutations revealed in a Greek population study for Fabry diseaseKoulousios, Konstantinos / Stylianou, Konstantinos / Katsinas, Christos / Kyriazis, John / Kyriklidou, Parthena / Lysitska, Katerina / Zamanakou, Maria / Loules, Gedeon / Germenis, Anastasios E. et al. | 2018
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Somatic effects of AGT-181 in patients with mucopolysaccharidosis I enrolled in a phase I/II clinical trial in BrazilGiugliani, Luciana / Donis, Karina Carvalho / Poswar, Fabiano / Giugliani, Roberto / Boado, Ruben et al. | 2018
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Fabry disease symptoms and impacts on daily life − A conceptual modelHamed, Alaa / Greene, Nupur / Gwaltney, Chad et al. | 2018
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Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trialHarmatz, Paul / Cattaneo, Federica / Ardigò, Diego / Geraci, Silvia / Amraoui, Yasmina / Gil-Campos, Mercedes / De Meirleir, Linda / Muschol, Nicole / Tylki-Szymanska, Anna / Wijburg, Frits et al. | 2018
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North American experience with laronidase enzyme replacement therapy for mucopolysaccharidosis type I in a home infusion settingGillis, Jane / Burton, Barbara / Inbar-Feigenberg, Michal / Mackrell, Margaret / Phornphutkul, Chanika / Stockton, David W. / Khan, Aneal et al. | 2018
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High accuracy enzymatic assay for enhanced second-tier followup of lysosomal diseasesGelb, Michael H. / Hong, Xinying / Ronald Scott, C. et al. | 2018
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Planning, implementation, and initial results of newborn screening for Pompe disease and MPS I in GeorgiaFoley, Allison / Cagle, Stephanie / Hagar, Arthur / Hall, Patricia / Laney, Dawn / Russo, Rossana Sanchez / Wittenauer, Angela / Wilcox, William R. et al. | 2018
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Neuroimaging and neuropathology reveal progressively abnormal white matter and cerebrospinal fluid volume in MPS I dogsDickson, Patricia / Chen, Steven / Nestrasil, Igor / Le, Steven / Kan, Shih-hsin / Jens, Jackie / Snella, Elizabeth / Matthew Ellinwood, N. / Guzman, Miguel / White, Leonard et al. | 2018
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Quantification of glucosylshingosine (lyso-Gb1) for the diagnosis and monitoring of Gaucher diseaseCozma, Claudia / Couchon, Elizabeth Couchon / Giese, Anne-Katrin / Iurascu, Marius / Rolfs, Arndt et al. | 2018
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Application of iTRAQ shotgun proteomics for revealing metabolic changes related to Gaucher diseaseCalderón, Enrique / Friaza, Vicente / Marín, Ignacio / Morilla, Rubén / Pereira, Estefania / Moreno, Fidel / Lopez, Rafael / Gimenez, Luis / Andres, Eduardo / de la Horra, Carmen et al. | 2018
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Long-term stability in randomized and non-randomized patients in the phase 3 randomized, double-blind EDGE trial of once- versus twice-daily dosing of eliglustat in patients with Gaucher disease type 1Charrow, Joel / Fraga, Cristina / Gu, Xuefan / Ida, Hiroyuki / Longo, Nicola / Lukina, Elena / Nonino, Alexandre / Gaemers, Sebastiaan J.M. / Jouvin, Marie-Helene / Li, Jing et al. | 2018
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Long-term study of growth and development outcomes in patients with infantile-onset Pompe disease receiving alglucosidase alfa: Safety data updateStockton, David W. / Shankar, Suma P. / Haack, Kristina An / Chen, Yixin / Byrne, Barry J. et al. | 2018
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Systemic mRNA therapy for the treatment of Fabry disease: Preclinical studies in GLA-deficient mice and rats, and wild-typenon-human primatesZhu, Xuling / Yin, Ling / Zhuo, Jenny / Miller, James J. / Siddiqui, Summar / Theisen, Matt / Levy, Becca / Howell, Rebecca / Presnyak, Vladimir / Beltrame, Angela et al. | 2018
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Galcablation in Schwann cells produces a demyelinating peripheral neuropathy characterized by psychosine formation but lacking globoid cellsWeinstock, Nadav I. / Shin, Daesung / Bongarzone, Ernesto R. / Nguyen, Duc / Silvestri, Nicholas J. / Wrabetz, Lawrence / Laura Feltri, M. et al. | 2018
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A consensus conference for cognitive endpoints for clinical trials and natural history studies in MPS diseasesShapiro, Elsa G. / Greenberg, Jennifer L. / Dant, Mark / Lavery, Christine / van der Lee, Johanna / Janzen, Darren / Delaney, Kathleen / Bigger, Brian et al. | 2018
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A major advance in the search for more effective therapy for Pompe diseaseRaben, Nina / Ralston, Evelyn / Lun, Yi / Ponery, Abdul S. / Frascella, Michelle / Garcia, Anadina / Valenzano, Kenneth J. / Gotschall, Russel / Do, Hung / Khanna, Richie et al. | 2018
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Fabry disease: Multi-disciplinary evaluation after 15 years of treatment with agalsidase betaPolitei, Juan / Cabrera, Gustavo / Durand, Consuelo / Frabasil, Joaquin / Schenone, Andrea Beatriz et al. | 2018
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Development of automated enzymatic assays for NAGLU, GALNS, ARSB and TPP1 for high throughput newborn screening using digital microfluidicsNorton, Scott / Chopra, Shaileja / Vadlamani, Pranathi / Singh, Raj / Pamula, Vamsee et al. | 2018
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Hepatocellular dysfunction and gene expression changes in the acid ceramidase deficient mouseMolino, Salvatore / Yu, Fabian P.S. / Sikora, Jakub / Rasmussen, Shauna / Geurts, Aron M. / Turner, Patricia V. / Medin, Jeffrey A. et al. | 2018
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A proposed staging system for CLN3 disease (juvenile Batten disease)Mink, Jonathan W. / Williams, Justin D. / Augustine, Erika F. et al. | 2018
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The importance of astrocytes in the pathophysiology of GBA1-associated Parkinson diseaseMcMahon, Benjamin / Aflaki, Elma / Sidransky, Ellen et al. | 2018
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Erythrocyte osmotic resistance test as a screening tool for lysosomal diseasesde Frutos, Laura López / Cebolla, Jorge J. / Irún, Pilar / Köhler, Ralf / Giraldo, Pilar et al. | 2018
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Subjective cognitive complaints and symptoms of depression are highly prevalent in Fabry disease and are not related to objective cognitive impairmentKörver, Simon / Langeveld, Mirjam / Geurtsen, Gert J. / van Schaik, Ivo N. / van Dussen, Laura / Hollak, Carla E.M. et al. | 2018
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A case of a 50-year-old woman with classic Fabry disease who showed serial electrocardiographic and echocardiographic changes for 17 yearsKim, Gee-Hee / Lee, Su-Nam / Yoo, Ki-Dong et al. | 2018
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Five year experience of diagnostic testing for lysosomal diseases in Germany, Austria and SwitzerlandKasper, David C. / Mechtler, Thomas P. / Streubel, Berthold et al. | 2018
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A multidisciplinary approach to the transition of adolescents with a lysosomal disorder from a pediatric to an adult health care centreHewson, Stacy / Mackrell, Margaret / Mecija, Michelle / Inbar-Feigenberg, Michal et al. | 2018
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Therapeutic correction of central nervous system pathology by intravenously administered chemically modified sulfamidase in a mouse model of mucopolysaccharidosis type IIIAGustavsson, Susanne et al. | 2018
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Pre-clinical safety and efficacy evaluation of GMP lentiviral vector in preparation for a clinical trial of hematopoietic stem cell gene therapy in MPS IIIAEllison, Stuart M. / Wood, Shaun / Sergijenko, Ana / Armant, Myriam / Chan, Lucas / Farzaneh, Farzin / Jones, Simon / Wynn, Rob / Gaspar, Bobby / Biffi, Alessandra et al. | 2018
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Infusion-related reactions in patients with mucopolysaccharidosis type II on idursulfase enrolled in the Hunter Outcome Survey (HOS)Burton, Barbara K. / Lampe, Christina / Lagler, Florian B. / Botha, Jaco / Whiteman, David A.H. et al. | 2018
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Early initiation of enzyme replacement therapy in pediatric Fabry diseaseBodamer, Olaf / Devarajan, Aishwarya / Sacharow, Stephanie / Hecht, Leah / Kritzer, Amy et al. | 2018
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Lysosomal acid lipase deficiency is associated with premature death in children and adultsBernstein, Donna L. et al. | 2018
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Gaucher disease in Ontario, Canada: Clinical manifestation, natural disease progression, and treatment responseAmato, Dominick / Yu, Chi Yun / Wasim, Syed et al. | 2018
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Genistein activates TFEB and induces lysosomal clearance in Niemann-Pick disease type C modelsFlorencio, Graciela Arguello et al. | 2018
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Collagen type I synthesis biomarkers predict the progression of Fabry disease cardiomyopathyAguiar, Patricio / Azevedo, Olga / Pinto, Rui / Marino, Jacira / Cardoso, Carlos / Sousa, Nuno / Cunha, Damião / Hughes, Derralynn / Soares, José Luís Ducla et al. | 2018
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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective studyFreihuber, Cecile / Dahmani, Bahia / Brassier, Anais / Broue, Pierre / Cances, Claude / Chabrol, Brigitte / Eyer, Didier / Labarthe, Fancois / Latour, Philippe / Levade, Thierry et al. | 2018
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Lessons learned after 5 years of treatment in adult patient with MPS VI. ERT, spinal decompression and home infusion therapy: A triangle for success?Politei, Juan / Durand, Consuelo / Schenone, Andrea Beatriz et al. | 2018
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Mucopolysaccharides quantitation in serum by liquid chromatography-tandem mass spectrometryRaymond, Kimiyo / Lacey, Jean M. / Dimitar, Gavrilov / Matern, Dietrich / Oglesbee, Devin / Rinaldo, Piero / Tortorelli, Silvia et al. | 2018
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Fetal accumulation of glycosaminoglycan in a mouse model of Hurler syndromePrzybilla, Michael J. / Ou, Li / Whitley, Chester B. et al. | 2018
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Busulfan, fludarabine and ATG confers excellent survival in cord blood transplant for children with MPS IHLum, Su Han / Miller, Weston / Lund, Troy / Orchard, Paul J. / Jones, Simon / Boelens, Jaap-Jan / Wynn, Robert et al. | 2018
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A decade of low transplant-related mortality in children with inherited metabolic diseasesLum, Su Han / Will, Andrew / Bonney, Denise / Hiwarkar, Prashant / Poulton, Kay / Church, Heather / Mercer, Jean / Tylee, Karen / Wraith, James Edward / Jones, Simon et al. | 2018
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New insights in efficacy of different dosages of enzyme replacement therapy due to treatment switch in Fabry diseaseLenders, Malte / Krämer, Johannes / Canaan-Kühl, Sima / Nordbeck, Peter / Üçeyler, Nurcan / Blaschke, Daniela / Duning, Thomas / Reiermann, Stefanie / Stypmann, Jörg / Brand, Stefan-Martin et al. | 2018
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Molecular diagnostic findings of lysosomal diseases in children and adults suspected to have inborn errors of metabolismHo, Yuan-Yuan / Murillo, Laura / Beltran, Daniel / Harte, Rachel / White, Hannah / Wong, Stacey / Fox, Michelle / Winder, Tom / Johnson, Britt et al. | 2018
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Cognition and brain involvement in infantile Pompe diseaseHerbert, Mrudu / Spiridigliozzi, Gail A. / Chen, Steven / Stefanescu, Mihaela / Austin, Stephanie L. / Provenzale, James M. / Kishnani, Priya S. et al. | 2018
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Hepatic and neuronal phenotype of the murine Niemann-Pick diseasetypeC mouse model NPC1-/-Flunkert, Stefanie / Auer, Ewald / Rabl, Roland / Loeffler, Tina / Neddens, Joerg / Hutter-Paier, Birgit et al. | 2018
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Is it time to redefine what it means to have type 3 Gaucher disease?Donald, Aimee / Jones, Simon A. et al. | 2018
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PPS beyond MPS: Efficacy in Fabry and Gaucher in vitro studiesCrivaro, Andrea N. / Bondar, Constanza / Ormazabal, Maximiliano / Mucci, Juan M. / Schuchman, Edward / Simonaro, Calogera / Rozenfeld, Paula et al. | 2018
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Use of trabecular bone score (TBS) as a complementary approach to bone mineral density (BMD) in Gaucher disease patients treated with imigluceraseEscobar, Nicolas Fernandez / Larroude, Maria Silvia / Aguilar, Gabriel / Rossi, Ignacio / Brun, Lucas / Drelichman, Guillermo et al. | 2018
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Disease severity scoring system for acid sphingomyelinase deficiency: Severity score domains and componentsCassiman, David / Cappellini, Maria Domenica / Mabe, Paulina / Polkey, Michael I. / Schiano, Thomas / Vanier, Marie / Wasserstein, Melissa P. et al. | 2018
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AAV vector comparability across mammalian and insect cell production platforms for treatment of lysosomal diseasesDavis, Adam / Lykken, Erik / Sharma, Amit / Padegimas, Linas / Kerns, Scott / Gray, Steven et al. | 2018
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Comorbidities in Gaucher diseaseBerrah, Abdelkrim / Hakem, Djennette et al. | 2018
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Death rates in the United States due to leukodystrophies in the global leukodystrophy initiative registry and related lysosomal disordersBarczykowski, Amy L. / Langan, Thomas J. / Vanderver, Adeline / Jalal, Kabir / Carter, Randy L. et al. | 2018
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Complex care of patients with multiple sulfatase deficiency: Clinical cases and guideline consensus statementAhrens-Nicklas, Rebecca / Schlotawa, Lars / Ballabio, Andrea / Brunetti, Nicola / De Castro, Mauricio / Ficicioglu, Can / Finglas, Alan / Kirmse, Brian / Lee, Marcus / Olsen, Amber et al. | 2018
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10 years of galsulfase in a tertiary treatment centerBroomfield, Alexander / Roberts, Jane / Finnegan, Niamh / Hensman, Pauline / Schwahn, Bernd / Jameson, Elisabeth / Ramirez, Roberto / Wilkinson, Stuart / Jones, Simon A. et al. | 2018
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The diagnosis and natural history of mucopolysaccharidosis type IVA in one familyMatalon, Dena / Dougherty, Patricia / Lulis, Lauren / Medne, Livija / Krantz, Ian / Yum, Sabrina / Ficicioglu, Can et al. | 2018
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Collaborative working to advance standards of care and the well-being of lysosomal disorder patients and families in the UKCollin-Histed, Tanya / Lavery, Christine / Mathieson, Toni / Roberts, Pat / Muir, Allan / West, Andrea / Lewi, Dan et al. | 2018
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Guided growth surgery for genu valgum in mucopolysaccharidosis type VI: Timing is everythingWood, Michelle / Williams, Nicole / Davison, James E. / Cleary, Maureen A. / Eastwood, Deborah M. et al. | 2018
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Novel mutations for late onset Fabry disease are being identified from newborn screening in the state of IllinoisWidera, Shanna / Charrow, Joel et al. | 2018
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Therapeutic goals in Fabry disease: European expert consensus recommendations based on current clinical evidenceWanner, Christoph / Germain, Dominique P. / Hilz, Max J. / Spada, Marco / Elliott, Perry M. et al. | 2018
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Intracerebral gene therapy in children with metachromatic leukodystrophy: Results of a phase I/II trialSevin, Caroline / Roujeau, Thomas / Cartier, Nathalie / Baugnon, Thomas / Adamsbaum, Catherine / Piraud, Monique / Martino, Sabata / Mouiller, Philippe / Couzinié, Célia / Bellesme, Céline et al. | 2018
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Evaluation of a novel, non-invasive iPSC based cell therapy for neuronopathic Gaucher diseasePeng, Yanyan / Liou, Benjamin / Inskeep, Venette / Blackwood, Rachel / Mayhew, Chris / Sun, Ying et al. | 2018
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Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine (Lyso-Gb3) and time to initiation of enzyme replacement therapy, an observational studyNowak, Albina / Haile, Sarah H. / Kasper, David C. / Mechtler, Thomas P. / Flammer, Andreas J. / Krayenbuehl, Pierre A. / Franzen, Daniel P. et al. | 2018
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Parietal epithelial cells (PEC) in male patients with Fabry disease neuropathyNajafian, Behzad / Chang, Fu-Pang / Sokolovskiy, Alexey / Mauer, Michael et al. | 2018
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Eliminating cross-correction allows for cell-specific expression of the lysosomal enzyme galactocerebrosidase in the twitcher mouseMikulka, Christina R. / Sands, Mark S. et al. | 2018
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High-throughput assay development for Niemann-Pick disease type A small molecule therapeuticsGorshkov, Kirill / Xu, Miao / Yang, Shu / Pradhan, Manisha / Zheng, Wei et al. | 2018
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Neurological manifestations in Fabry disease, series of 11 cases, from a high specialty medical unit, IMSS, Ciudad Obregon, Sonora, MexicoFigueroa-Sauceda, Sergio R. / Vargas-Velazquez, Juan / Romero-Trejo, Juan M. / Valadez-Juvera, Guillermo et al. | 2018
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Significant variability in phenotype in an unusual family with attenuated MPS II (Hunter syndrome)Finnigan, Niamh / Roberts, Jane / Breen, Catherine / Rust, Stewart / Hendriksz, Christian / Newman, Bill / Ashworth, Jane / Jones, Simon et al. | 2018
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Fast genetic diagnosis of lysosomal disorders by means of a novel NGS-based resequencing gene paneldel Castillo, Francisco J. / Muñoz, Gloria / García-Seisdedos, David / Sánchez-Herranz, Antonio / Morado, Marta / Valles, Ana / Piris, Miguel / Martín-Moro, Fernando / Sanz-Rupérez, Alejandro / López-Jiménez, Javier et al. | 2018
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Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick disease types A/B and C: Three years experienceCozma, Claudia / Iurascu, Marius I. / Oprea, Gabriela / Lukas, Jan / Zielke, Susanne / Giese, Anne-Katrin / Rolfs, Arndt et al. | 2018
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Neonatal screening for lysosomal disorders in Italy: The initial 17-month experienceBurlina, Alberto B. / Polo, Giulia / Salviati, Leonardo / Duro, Giovanni / Zizzo, Carmela / Dardis, Andrea / Bembi, Bruno / Cazzorla, Chiara / Rubert, Laura / Zordan, Roberta et al. | 2018
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Intracerebrovascular enzyme replacement therapy for CLN2 disease: A collaborative, multi-disciplinary approachPires-Barracosa, Naomi / Movsesyan, Nina / Truong, Nicole / Olaya, Joffre / See, Susan / Adlard, Kathleen / Stockton, Winifred / Wang, Raymond et al. | 2018
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A case of Schindler disease in the setting of familial cardiomyopathyOrtiz, Damara / Henderson, Nadene / Acquaro, Roxanne / Donti, Taraka / Cathey, Sara / Pollard, Laura / Wood, Tim / Liu, Pengfei / Eng, Christine M. et al. | 2018
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Interest of the pharmacological chaperone migalastat in the treatment of Fabry diseaseNoël, Esther / Mourot-Cottet, Rachel / Andres, Emmanuel et al. | 2018
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Evaluation of an investigational product for the measurement of enzyme activity related to lysosomal disordersLukacs, Zoltan / Rehnberg, Jonathan / Wessels, Cristiaan et al. | 2018
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Functional and biological studies of alpha galactosidase A variants with uncertain significance from newborn screening in TaiwanLiao, HsuanChieh / Hsu, Ting-Rong / Liu, MeiYing / Chen, HsiaoJan / Chan, MinJu / Chiang, Chuan-Chi / Niu, Dau-Ming / Chen, Yann-Jang et al. | 2018
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Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell linesIvanova, Margarita M. / Changsila, Erk / Goker-Alpan, Ozlem et al. | 2018
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Clinical outcomes in Morquio syndrome type A treated with elosulfase alfa: results from the managed access agreement in EnglandHughes, Derralynn / Cleary, Maureen / Geberhiwot, Tarekegn / Hendriksz, Christian J. / Jones, Simon A. / Jovanovic, Ana / Lavery, Christine / Murphy, Elaine / Vijay, Suresh et al. | 2018
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Metachromatic leukodystrophy and caregiver perspectives: Understanding the natural history of the disease from interviews with caregiversHarrington, Magdalena / Whalley, Diane / Twiss, James / Rushton, Rebecca / Martin, Susan / Huynh, Lynn / Yang, Hongbo et al. | 2018
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Testing combinatorial therapies for juvenile Batten diseaseCooper, Jonathan / Tarczyluk, Marta / Najafi, Allison / Salzlechner, Chris / Lim, Ming / Pearce, David / Smith, David / Platt, Fran / Williams, Brenda et al. | 2018
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Precision medicine for Fabry disease: Benign and like-benign missense mutationsChen, Brenden / Pagant, Silvere / Desnick, Robert J. et al. | 2018
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Mass or high-risk screening of mucopolysaccharidoses using urine samples collected on filter paperAuray-Blais, Christiane / Lavoie, Pamela et al. | 2018
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Systemic improvement in Niemann-Pick disease type B after liver transplantationWasserstein, Melissa / Fein, Daniel / Fischetti, Jessica / Kelly, Nicole / Lin, Na / Yu, Chunli et al. | 2018
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Substrate degradation enzyme therapy (SDET) for mucopolysaccharidosis type IVATomatsu, Shunji / Sawamoto, Kazuki / Sakai, Tokiko / Kitazawa, Ikue / Futatsumori, Hideyuki / Nakamura, Takehiko et al. | 2018
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Coping strategies, stress, and support needs in caregivers of children with mucopolysaccharidosisSchadewald, Amy / Kimball, Ericka / Ou, Li et al. | 2018
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Recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme produced in pichia pastoris as an alternative for Morquio syndrome type A ERTRodríguez-López, Alexander / Pimentel-Vera, Luisa N. / Espejo-Mojica, Angela J. / Hidalgo, Oscar A. / Tomatsu, Shunji / Alméciga-Díaz, Carlos J. et al. | 2018
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Recommendations for evaluation and management of pain in patients with mucopolysaccharidosis in Latin AmericaPolitei, Juan / Gonzalez, Gisel Gordillo / Guelbert, Norberto / de Souza, Carolina Fischinger Moura / Junqueira, Mariana / Lourenco, Charles / Solano, Martha et al. | 2018
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Reclassification of common variants of unknown significance in the hexosaminidase A gene: Implications for Tay-Sachs disease carrier screeningSmith, Elizabeth D. / Grinzaid, Karen A. / Hardy, Melanie / Cecchi, Alana / Kiger, Laura / Muzzey, Dale / Kaseniit, Eerik / Moyer, Krista et al. | 2018
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Enhancements to the Rare Diseases Clinical Research Network Contact RegistryWilliams, Miranda N. / Kirscher, Jeffrey P. et al. | 2018
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A case with Pallister-Killian syndrome misdiagnosed as mucopolysaccharidosisMungan, Neslihan / Kılavuz, Sebile / Bulut, Derya / Kör, Deniz / Yılmaz, Berna / Ceylaner, Serdar et al. | 2018
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Optimizing immune tolerizing regimens for in-vivo gene therapyKim, Sarah / Jarnes, Jeanine et al. | 2018