Factors that influence an individual's or parent's willingness to follow a prescribed treatment plan for Fabry disease (Englisch)
- Neue Suche nach: Miller, K.
- Neue Suche nach: Miller, K.
In:
MOLECULAR GENETICS AND METABOLISM
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117
, 2
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S81-
;
2016
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ISSN:
- Aufsatz (Zeitschrift) / Print
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Titel:Factors that influence an individual's or parent's willingness to follow a prescribed treatment plan for Fabry disease
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Beteiligte:Miller, K. ( Autor:in )
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Erschienen in:MOLECULAR GENETICS AND METABOLISM ; 117, 2 ; S81-
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Verlag:
- Neue Suche nach: Elsevier Science B.V., Amsterdam
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Erscheinungsdatum:01.01.2016
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Format / Umfang:S81-
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ISSN:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Print
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Sprache:Englisch
- Neue Suche nach: 611.01816
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Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detrainingJones, H. N. / Crisp, K. D. / Robey, R. R. / Case, L. E. / Kravitz, R. M. / Kishnani, P. S. et al. | 2016
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Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction networkSalazar, D. A. / Rodríguez-López, A. / Herreño, A. l. / Barbosa, H. / Herrera, J. / Ardila, A. / Barreto, G. E. / González, J. / Alméciga-Díaz, C. J. et al. | 2016
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A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II miceShimada, Y. / Wakabayashi, T. / Akiyama, K. / Hoshina, H. / Higuchi, T. / Kobayashi, H. / Eto, Y. / Ida, H. / Ohashi, T. et al. | 2016
- 144
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Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6months of therapy in cats using different IV infusion durationsRuane, T. / Haskins, M. / Cheng, A. / Wang, P. / Aguirre, G. / Knox, V. W. / Qi, Y. / Tompkins, T. / O'Neill, C. A. et al. | 2016
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Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imigluceraseSmith, L. / Rhead, W. / Charrow, J. / Shankar, S. P. / Bavdekar, A. / Longo, N. / Mardach, R. / Harmatz, P. / Hangartner, T. / Lee, H. M. et al. | 2016
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Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug–drug interactionsUtz, J. / Whitley, C. B. / van Giersbergen, P. L. / Kolb, S. A. et al. | 2016
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Down-regulation of B cell-related genes in peripheral blood leukocytes of Parkinson's disease patients with and without GBA mutationsKobo, H. / Bar-Shira, A. / Dahary, D. / Gan-Or, Z. / Mirelman, A. / Goldstein, O. / Giladi, N. / Orr-Urtreger, A. et al. | 2016
- 186
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Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disordersFerraz, M. J. / Marques, A. R. / Gaspar, P. / Mirzaian, M. / van Roomen, C. / Ottenhoff, R. / Alfonso, P. / Irún, P. / Giraldo, P. / Wisse, P. et al. | 2016
- 194
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Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohortArends, M. / Linthorst, G. E. / Hollak, C. E. / Biegstraaten, M. et al. | 2016
- 199
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Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusionCondori, J. / Acosta, W. / Ayala, J. / Katta, V. / Flory, A. / Martin, R. / Radin, J. / Cramer, C. L. / Radin, D. N. et al. | 2016
- 210
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Histochemical localization of palmitoyl protein thioesterase-1 activityDearborn, J. T. / Ramachandran, S. / Shyng, C. / Lu, J. Y. / Thornton, J. / Hofmann, S. L. / Sands, M. S. et al. | 2016
- 217
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Implementing evidence-driven individualized treatment plans within Morquio A SyndromeClarke, L. A. / Harmatz, P. / Fong, E. W. et al. | 2016
- 218
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Molecular Genetics and Metabolism Reports| 2016
- IFC
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Editorial Board| 2016
- iii
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Table of Contents| 2016
- S2
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WORLDSymposium™ 2016Whitley, C. B. et al. | 2016
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WORLDSymposium 2016 Program| 2016
- S14
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Long-term follow up and sudden unexpected death in Gaucher disease type 3 in EgyptAbdelwahab, M. / Blankenship, D. / Schiffmann, R. et al. | 2016
- S14
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Lectin-mediated delivery of α-L-iduronidase: A novel approach for MPS I enzyme replacement therapyAcosta, W. L. / Ou, L. / Ayala, J. / Condori, J. / Katta, V. / Flory, A. / Martin, R. / Radin, J. / Whitley, C. B. / Cramer, C. L. et al. | 2016
- S14
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Ocular abnormalities in Egyptian Gaucher disease patientsAbdelwahab, M. / Zedan, R. et al. | 2016
- S15
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Prognostic model for hearing loss in Fabry diseaseAguiar, P. / Warwick, A. L. / McKie, M. et al. | 2016
- S15
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Evolving improved therapeutic proteins for treating Fabry diseaseAgard, N. / Miller, M. / Huisman, G. et al. | 2016
- S15
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IPSC-derived dopaminergic neurons from patients with Gaucher disease and Parkinsonism demonstrate the potential of a new glucocerebrosidase chaperoneAflaki, E. / Borger, D. K. / Moaven, N. / Stubblefield, B. K. / Rogers, S. A. / Patnaik, S. / Westbroek, W. / Sullivan, P. / Fujiwara, H. / Lopez, G. et al. | 2016
- S16
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Urinary type IV collagen: Better than albuminuria to identify incipient Fabry nephropathyAguiar, P. / Pinto, R. / Azevedo, O. / Marino, J. / Baker, R. / Cardoso, C. / Soares, J. L. / Hughes, D. et al. | 2016
- S16
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Association of physical symptom score (PSS) with age and cognitive measures in attenuated mucopolysaccharidosis types I, II and VIAhmed, A. / Shapiro, E. / Rudser, K. / King, K. / Whitley, C. B. et al. | 2016
- S16
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Mutations in the GBA1 gene in Spanish population with Parkinson disease and plasma miRNAAlfonso, P. / Gervas, J. / Garcia-Rodriguez, B. / Capablo, J. L. / Pocovi, M. / Giraldo, P. et al. | 2016
- S17
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Cell uptake evaluation of human recombinant lysosomal enzymes produced in Pichia pastorisAlmeciga, C. J. / Espejo-Mojica, A. / Rodriguez-López, A. / Losada, C. / Sanchez, J. / Ramírez, A. M. / Pimentel, N. / Beltran, L. M. / Diaz, D. / Barrera, L. A. et al. | 2016
- S17
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Study of CYP2D6 genotyping in Spanish type 1 Gaucher disease patientsAlfonso, P. / de Frutos, L. L. / Andrade-Campos, M. / Giraldo, P. et al. | 2016
- S17
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Attention difficulties and attention deficit/hyperactivity symptoms in adults with Fabry diseaseAli, N. / Hodgkins, A. et al. | 2016
- S18
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New measure to assess severity of MPS II: the disease severity scoreAmartino, H. / Burton, B. / Giugliani, R. / Harmatz, P. / Jones, S. A. / Scarpa, M. / Solano, M. / Zafeiriou, D. / Vernon, M. / Raluy-Callado, M. et al. | 2016
- S18
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Rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations by free fetal cell DNA analysis; Gaucher disease as a proof of principleAltarescu, G. et al. | 2016
- S18
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Immunomodulation in a patient with Morquio syndrome type A treated with enzyme replacement therapyAlshuaibi, W. / Hale, S. / Petroni, D. / Skoda-Smith, S. / Goldberg, M. J. / Sun, A. et al. | 2016
- S19
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Chagas and Fabry diseases comorbidity in an Argentinian patient: double threat for the heartAmartino, H. / Baratta, S. / Abella, D. / Ayerdi, M. L. / Hita, A. et al. | 2016
- S19
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Multisensory processing in isorders: A behavioral and high-density electrophysiology investigation in Niemann-Pick type C and cystinosisAndrade, G. N. / Molholm, S. / Pal, A. / Kaskel, F. / Walkley, S. U. / Foxe, J. J. et al. | 2016
- S19
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Aberrant mongolian spots as a clue to early diagnosis of Hunter syndromeAmartino, H. / Luna, P. / Durand, C. / Fainboim, A. / Schenone, A. / Rozenfeld, P. / Larralde, M. et al. | 2016
- S20
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Follow-up of bone disease in a large cohort of Gaucher diseaseAndrade Campos, M. M. / Espiau, M. R. / Tena, E. V. / Giraldo, P. et al. | 2016
- S20
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Gaucher disease type 3 in Spain. Outcomes and characterizationAndrade Campos, M. M. / Capablo, J. L. / de Cabezón, A. S. / Irún, P. I. / Fraile, J. J. / Andres, A. G. / Armstrong, J. / Barbera, J. L. / Domingo, R. / Franco, R. et al. | 2016
- S21
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Laronidase hypersensitivity and desensitization of mucopolysaccharidosis I (Scheie syndrome) patientAranda, C. / Magalhães, T. d. / Franco, J. F. / Ensina, L. F. / de Lacerda, A. E. / Martins, A. M. et al. | 2016
- S21
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Chaperone mediated gene therapy for type I sialidosisAnnunziata, I. / Hu, H. / Gomero, E. / d'Azzo, A. et al. | 2016
- S21
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Time- and dose-dependent normalization of pathological lysosomal storage and biochemistry in the mucopolysaccharidosis ΙΙΙΒ (MPS ΙΙΙΒ, Sanfilippo syndrome type Β) mouse model by intracerebroventricular enzyme replacement therapy with ΒΜΝ 250, a ΝAGLU-ΙGF2 fusion proAoyagi-Scharber, M. / Vincelette, J. / Lawrence, R. / Crippen-Harmon, D. / Yip, B. K. / Baridon, B. / Prill, H. / Minto, W. C. / Van Vleet, J. L. / Vitelli, C. et al. | 2016
- S22
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Simultaneous analysis of glucosylceramide and galactosylceramide isoforms in mouse and human brain tissue samples using UPLC-MS/MSAuray-Blais, C. / Boutin, M. / Shacka, J. J. et al. | 2016
- S22
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Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities?Austin, S. / Bailey, L. / Sullivan, J. / Bailey, C. / Viskochill, D. / Kishnani, P. et al. | 2016
- S22
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Infusion related hypersensitivity reaction to enzyme replacement therapy for lysosomal diseasesAranda, C. / Ensina, L. F. / Mendes, C. / Camelo-Nunes, I. / Curiati, M. / Mallozi, M. / Solé, D. / Martins, A. M. et al. | 2016
- S23
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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapyAustin, S. L. / Hobson-Webb, L. / Prater, S. N. / Banugaria, S. G. / Wang, R. / Enterline, D. S. / Frush, D. P. / Kishnani, P. S. et al. | 2016
- S23
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Uptake, lysosomal activation, and disease correction in GM1 Gangliosidosis cells by plant-made β-galactosidase: Lectin fusionsAyala, J. / Acosta, W. / Condori, J. / Annunziata, I. / Katta, V. / Flory, A. / Martin, R. / Radin, J. / Cramer, C. L. / d'Azzo, A. et al. | 2016
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Histologic characterization of the progression of central nervous system pathology in the mucopolysaccharidosis IIIB (MPS IIIB, Sanfilippo syndrome type B) mouse model and bio-distribution and efficacy of the intracerebroventricular enzyme replacement therapy, BMN 250Bagri, A. / Harmon, D. / Vincelette, J. / Vitelli, C. / Minto, W. / Yates, B. / Rigney, S. / Santiago, P. / Baridon, B. / Xie, L. et al. | 2016
- S24
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Krabbe and Niemann-Pick disorders: Development of novel fluorimetric assays using dried blood spotsBali, D. / Pham, H. / Graham, C. / Ross, P. / Nuffer, M. / Norton, S. / Singh, R. / Ullal, A. / Pamula, V. et al. | 2016
- S24
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Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathyBailey, L. A. / Mori, M. / Bali, D. / Buckley, A. F. / Kishnani, P. S. et al. | 2016
- S24
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Immunohistochemical analysis of mannose 6-phosphate/insulin-like growth factor 2 receptor in murine wild-type and mucopolysaccharidosis IIIB mutant central nervous system vasculature and implications for trans-blood brain barrier (BBB) transportBagri, A. / Harmon, D. / Rigney, S. / Nave, L. / Minto, W. / Vitelli, C. / Yates, B. / Vincelette, J. / Santiago, P. / Baridon, B. et al. | 2016
- S25
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The French Gaucher Disease Registry: Clinical characteristics, complications and treatment of 616 patientsStirnemann, J. / Hamroun, D. / Bengherbia, M. / Yousfi, K. / Berger, J. / Brassier, A. / Broissand, C. / Caillaud, C. / Camou, F. / Dalbies, F. et al. | 2016
- S25
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Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite eventsBeck, M. / Hughes, D. / Kampmann, C. / Bizjajeva, S. / Pintos-Morell, G. / Ramaswami, U. / West, M. / Giugliani, R. et al. | 2016
- S25
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Leukocyte cystine as a biomarker to monitor cystinosisBarshop, B. A. / Gertsman, I. / Gangoiti, J. A. et al. | 2016
- S26
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The validation of pharmacogenetics in the identification of patients with Fabry disease for treatment with migalastatBenjamin, E. R. / Valle, C. D. / Wu, X. / Katz, E. / Valenzano, K. J. / Bichet, D. G. / Germain, D. / Giugliani, R. / Hughes, D. / Schiffmann, R. et al. | 2016
- S26
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Intranasal gene delivery of AAV9 iduronidase: A non-invasive and effective gene therapy approach for prevention of neurologic disease in a murine model of mucopolysaccharidosis type IBelur, L. / Buckvold, M. / Podetz-Pedersen, K. M. / Riedl, M. / Vulchanova, L. / Hanson, L. R. / Fairbanks, C. / Kozarsky, K. / Frey, W. H. / Low, W. C. et al. | 2016
- S26
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Gene delivery and biodistribution following intravenous administration of AAV9/rh10 iduronidase in a murine model of MPS type IBelur, L. / Tran, T. A. / Podetz-Pedersen, K. M. / Riedl, M. / Vulchanova, L. / Kozarsky, K. / Low, W. C. / Scott McIvor, R. et al. | 2016
- S27
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Unexpected resolution of cardiomyopathy in severe alpha-mannosidosisBergin, N. / Fletcher, B. n. / Franklin, O. / Crushell, E. et al. | 2016
- S27
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A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correctionBergsma, A. J. / in't Groen, S. L. / van der Ploeg, A. T. / Pijnappel, P. W. et al. | 2016
- S27
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Long-term immune tolerance of infantile Pompe disease with entrenched immune responses to ERT using a bortezomib-based regimenBerrier, K. L. / Kazi, Z. B. / Prater, S. N. / Kishnani, P. S. et al. | 2016
- S28
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Structural changes in the brain of patients with Gaucher diseaseBertholdo, D. / Vairo, F. / Vanz, A. P. / Massuda, R. / Vedolin, L. / Schwartz, I. et al. | 2016
- S28
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Long term outcome of bone marrow transplantation for Hunter syndrome: A case reportBerry, L. / Bailey, L. / Andrew Burrow, T. / Wehmeyer, C. et al. | 2016
- S28
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Molecular characterization and identification of novel mutations in the PPT1 gene causing neuronal ceroid lipofuscinosis-1 (NCL1) in children from IndiaBhavsar, R. A. / Sheth, J. J. / Mistri, M. A. / Kamate, M. R. / Sheth, F. J. et al. | 2016
- S29
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Assessment of n-butyl-deoxynojirimycin as a therapeutic option for mucolipidosis type IVBoudewyn, L. C. / Sikora, J. / Kuchar, L. / Ledvinova, J. / Walkley, S. U. et al. | 2016
- S29
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Natural history study and preliminary assessment of therapies in canine globoid cell leukodystrophyBradbury, A. / Swain, G. / Rafi, M. / Bagel, J. / Prociuk, M. / O'Donnell, P. / Peterson, D. / Ory, D. / Provenzale, J. / Wenger, D. et al. | 2016
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Aortic root dilatation in mucopolysaccharidosisBolourchi, M. / Chen, Y. / Renella, P. / Nguyen, D. V. / Wang, R. et al. | 2016
- S30
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Are Fabry disease patients at risk of osteoporosis?Brand, P. / Khan, A. / Maduk, C. / Boyd, S. et al. | 2016
- S30
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A facial gestalt in early onset lysosmal acid lipase deficiency, an evolving phenotypeBreen, C. / Jones, S. A. / Douzgou, S. et al. | 2016
- S30
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Galsulfase (Naglazyme) after hematopoietic cell transplant for MPS VI (Maroteaux-Lamy syndrome)Braunlin, E. / Whitley, C. B. / Utz, J. / Orchard, P. et al. | 2016
- S30
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Newborn screening for lysosomal diseases: The Italian experienceBurlina, A. B. / Polo, G. / Furlan, F. / Lusiani, E. / Kolamunnage, T. B. / Del Rizzo, M. / Giordano, L. / Ranieri, E. et al. | 2016
- S31
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Basilar artery remodeling in Fabry diseaseBurlina, A. P. / Germain, D. P. / Righetto, S. / Citton, V. / Guarise, A. / Tonioli, E. / Colas, F. d. / Carlier, R. / Manara, R. et al. | 2016
- S31
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Survival in idursulfase-treated and untreated patients with MPS II: Data from the Hunter Outcome Survey (HOS)Burton, B. K. / Jego, V. / Jones, S. A. et al. | 2016
- S31
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Newborn screening for lysosomal disorders in IllinoisBurton, B. K. / Hoganson, G. E. / Charrow, J. / Tinkle, B. / Dimmock, D. / Waggoner, D. / Grange, D. / Nash, C. / Becker, J. / Shao, R. et al. | 2016
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Natural history of metachromatic leukodystrophyCarson, V. / Poe, M. / Escolar, M. et al. | 2016
- S32
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Evaluation of different approaches to lysosomal acid lipase deficiency screeningCebolla, J. J. / Irun, P. / Pocovi, M. / Giraldo, P. et al. | 2016
- S32
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Urinary glycosaminoglycan concentration as a biomarker for effectiveness of enzyme replacement and gene therapy in large animal models of mucopolysaccharidosesCasal, M. L. / Wang, P. / ODonnell, P. A. / Sikora, T. / Langan, T. / O'Malley, T. / Ferla, R. / Auricchio, A. / Wilson, J. M. / Gao, G. et al. | 2016
- S33
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Differential response of glomerular parietal epithelial cells and podocytes to enzyme replacement therapy in Fabry nephropathyChang, F. P. / Mauer, M. / Sokolovskiy, A. / Tøndel, C. / Svarstad, E. / Najafian, B. et al. | 2016
- S33
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Adhesion to the enzymatic replacement therapy in Gaucher disease and the effect on the bone healthCerón, M. et al. | 2016
- S33
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Dried blood spot screening of lysosomal acid lipase deficiency and confirmatory studies in Spanish suspected patientsCebolla, J. J. / Irun, P. / Gonzalez-Dieguez, L. / del Valle Loarte, P. / Barba-Romero, M. A. / Garcia-Jimenez, I. / Ros Arnal, I. / Giraldo, P. et al. | 2016
- S34
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Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-naïve patients with Gaucher diseaseChertkoff, R. / Zimran, A. / Duran, G. / Giraldo, P. / Rosenbaum, H. / Giona, F. / Petakov, M. / Solorio-Meza, S. E. / Cooper, P. A. / Varughese, S. et al. | 2016
- S34
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Gaucher disease is associated with lymph node reactive follicular hyperplasia with tangible body (M2) macrophagesChangsila, E. / Goker-Alpan, O. / Limgala, R. P. / Dutta, S. / Hoard, M. / Iaonou, C. / Badger, A. / Ivanova, M. et al. | 2016
- S34
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Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis IChen, A. / Dickson, P. / Shapiro, E. / Eisengart, J. / Nestrasil, I. / Harmatz, P. et al. | 2016
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Slowly progressive myopathy in neonatal-treated patients with infantile-onset Pompe disease: A longitudinal prospective muscle MRI cohort studyChien, Y. H. / Hwu, W. L. / Peng, S. S. et al. | 2016
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Biodistribution of idursulfase in cynomolgus monkeys after intrathecal-lumbar administrationChung, J. K. / Brown, E. / Crooker, R. / Palmieri, K. J. / McCauley, T. G. et al. | 2016
- S35
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Successful implementation of plasma oxysterol for screening of Niemann-Pick disease type C in Manchester, UKChurch, H. J. / Wu, H. / Cooper, J. / Tylee, K. L. / Heptinstall, L. / Hartley, C. / Phillippo, S. / Jameson, E. / Broomfield, A. / Hendriksz, C. et al. | 2016
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Implementation of newborn screening for lysosomal disease: A clinician perspectiveCorkery, J. T. / McRae, A. / O'Neill, S. M. / Helgeson, M. / Charrow, J. / Dineen, R. et al. | 2016
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Progressive neuropathology in the spinal cord of a mouse model of CLN1 disease and assessing the efficacy of intrathecal enzyme replacement therapy (ERT)Cooper, J. / Dmytrus, J. / Sri, S. / Dearborn, J. / Sands, M. / Lu, J. Y. / Wang, L. / Hofmann, S. / Nelvagal, H. et al. | 2016
- S36
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Novel bioproduction and delivery strategies for MPS IIIA enzyme replacement therapeuticsCondori, J. / Katta, V. / Acosta, W. / Ayala, J. / Flory, A. / Radin, J. / Davis, S. / Cramer, C. L. / Radin, D. N. et al. | 2016
- S37
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Four-year follow-up from the ENCORE trial: A randomized, controlled, non-inferiority study comparing eliglustat to imiglucerase in patients with Gaucher disease type 1 stabilized on enzyme replacement therapyCox, T. M. / Drelichman, G. / Balwani, M. / Burrow, T. A. / Lukina, E. / Rosenbloom, B. / Gaemers, S. J. / Angell, J. / Judith Peterschmitt, M. et al. | 2016
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Agalsidase beta and infusion-related reactions: Findings in Brazilian patientsCuriati, M. A. / Mendes, C. S. / Aranda, C. S. / Maia, M. / Ensina, L. F. / Solé, D. / Martins, A. M. et al. | 2016
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Functional performance in patients with late-onset Tay-Sachs and Sandhoff diseasesCox, G. / Eichler, F. / Sathe, S. / Kissell, J. / Hamed, A. / Kahn, S. et al. | 2016
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Pathogenic cascade downstream of NEU1 regulated lysosomal exocytosisd'Azzo, A. et al. | 2016
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Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophyDali, C. / Sevin, C. / Riethmüller, J. / Giugliani, R. / Troedson, C. / Bhargava, P. / Wijatyk, A. et al. | 2016
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Different cyclodextrins for the treatment of Niemann-Pick disease type CDavidson, C. / Fishman, Y. / Puskas, I. / Szeman, J. / Sohajda, T. / Sikora, J. / Vanier, M. T. / Szente, L. / Walkley, S. U. / Dobrenis, K. et al. | 2016
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Platelet response to enzyme replacement therapy and oral substrate reduction therapy in an adult with Gaucher diseaseDeArmey, S. / Charles, W. / Kishnani, P. S. et al. | 2016
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Synaptic dysfunction in Sanfilippo syndrome type Cde Aragao, C. / Bruno, L. / Han, C. / DiCristo, G. / McPherson, P. / Pshezhetsky, A. V. et al. | 2016
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Electrocardiograph findings when screening for initiation of oral substrate reduction therapy with eliglustat for treatment of Gaucher diseaseDeArmey, S. / Kishnani, P. S. et al. | 2016
- S40
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The molecular basis of Pompe disease: Crystal structure of acid alpha glucosidaseDeming, D. T. / Garman, S. C. et al. | 2016
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Risk factors for fracture in imiglucerase-treated Gaucher disease type 1 patients in the ICGG Gaucher RegistryDeegan, P. B. / Batista, J. et al. | 2016
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ZFN-mediated in vivo genome editing results in supraphysiological levels of human iduronate 2-sulfatase and phenotypic correction in a murine MPS II modelDeKelver, R. / Laoharawee, K. / Tom, S. / Radeke, R. / Rohde, M. / Manning-Bog, A. / Sproul, S. / Podetz-Pedersen, K. M. / Holmes, M. C. / Whitley, C. B. et al. | 2016
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Evolution of cardiac pathology in type 1 classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophyDesnick, R. J. / Chimenti, C. / Doheny, D. / Frustaci, A. et al. | 2016
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Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapyDesai, A. K. / Kazi, Z. B. / Kishnani, P. S. et al. | 2016
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Unexpected and paediatric death in UK patients with neuronopathic Gaucher diseaseDonald, C. A. / Jones, S. / Chakrapani, A. / Collin-Histed, T. / Vellodi, A. / Hendriksz, C. / Hughes, D. / Cox, T. et al. | 2016
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Cognitive decline in classic infantile Pompe disease, an underacknowledged challengeEbbink, B. J. / Poelman, E. / Plug, I. / Lequin, M. H. / van Doorn, P. A. / Aarsen, F. K. / van der Ploeg, A. T. / van den Hout, J. M. et al. | 2016
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Lysosomal degradation of heparan sulfate is required for normal development of the neural circuitryDwyer, C. / Lin, Y. / Dozier, L. / Schnaar, R. / Allen, N. / Patrick, G. / Esko, J. et al. | 2016
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The role of complement system in GM2 gangliosidoses: Implications for Tay-Sachs and Sandhoff diseaseEichler, F. S. / Byung Kyu, J. et al. | 2016
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Outcomes of enzyme replacement therapy in a 14-year-old female with Hurler syndromeEisengart, J. B. / Shapiro, E. / Delaney, K. / Nestrasil, I. / Ahmed, A. / Hampton, L. / Whitley, C. B. et al. | 2016
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Virtual collaborations for developing Sanfilippo syndrome treatments on a shoestringEkins, S. / Moen, D. R. / Wood, J. et al. | 2016
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Twenty-six week or longer intracerebroventricular (ICV) infusion study of BMN 250 administered once every 2weeks in a canine model of mucopolysaccharidosis type IIIB (MPS IIIB)Matthew Ellinwood, N. / Johnson, B. N. / Jens, J. K. / Snella, E. M. / Ware, W. A. / Hostetter, S. / Ben-Shlomo, G. / Jeffery, N. / Safayi, S. / Millman, S. et al. | 2016
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The Gaucher Disease Outcome Survey: Description of the population in an ongoing international observational disease registryElstein, D. / Schwartz, I. / Deegan, P. / Lau, H. / Goker-Alpan, O. / Lukina, E. A. / Bembi, B. / Belmatoug, N. / Sasso, D. F. / Giraldo, P. et al. | 2016
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Taliglucerase alfa during pregnancy for patients with type 1 Gaucher diseaseElstein, D. / Rosenbaum, H. / Chertkoff, R. / Zimran, A. et al. | 2016
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Therapeutic goals and normal clinical values achieved within 4years of initiating velaglucerase alfa in treatment-naïve patients with Gaucher disease in phase 3 studiesElstein, D. / Zimran, A. / Gonzalez, D. E. / Lukina, E. A. / Qin, Y. / Dinh, Q. / Turkia, H. B. et al. | 2016
- S45
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Mucolipidosis type II (I-cell disease) with pulmonary hypertension and difficult airwayEminoglu, F. T. / Yaman, A. / Kendirli, T. l. / Odek, C. / Ucar, T. et al. | 2016
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Children with type 1 Gaucher disease: Changing profiles in the 21st centuryElstein, D. / Abrahamov, A. / Altarescu, G. / Zimran, A. et al. | 2016
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Case presentation: A girl with cholesterol ester storage diseaseEminoglu, F. T. / Bolkent, M. G. / Kuloglu, Z. / Kansu, A. et al. | 2016
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Experience of withdrawal of elosulfase alpha (VIMIZIM) from patients at an LD centre in North West EnglandFinnigan, N. / Breen, C. / Hensman, P. / Mercer, J. / Jones, S. A. et al. | 2016
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Correlation levels of activities of daily living and disaccharide concentrations in mucopolysaccharidosesFoerster, K. / Gan, Q. / Campbell, M. / Tomatsu, S. / Orii, T. / Suzuki, Y. / Montaño, A. M. et al. | 2016
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Determination and validation of cutoff score for newborn screening of mucopolysaccharidosesFoerster, K. / Gan, Q. / Campbell, M. / Tomatsu, S. / Orii, T. / Suzuki, Y. / Yamaguchi, S. / Montaño, A. M. et al. | 2016
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Irish nursing experience of discontinuing enzyme replacement therapyFletcher, B. / Clancy, C. / Hughes, J. / Crushell, E. / Losty, E. et al. | 2016
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Functional benefits of systemic rAAV9-hids gene delivery in MPS II mouse modelFu, H. / Zaraspe, K. / Meadows, A. / Camboni, M. / McCarty, D. M. et al. | 2016
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Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiencyFriedman, M. / Valayannopoulos, V. / Grande, C. C. / Sanchez, A. C. / Kane, J. / Kostyleva, M. / Tylki-Szymanska, A. / Sokal, E. / Sharma, R. / Rojas-Caro, S. et al. | 2016
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Manipulation of regional brain bis(monoacylglycero)phosphate in the MPS I mouse by dietary fatty acid supplementationFuller, M. et al. | 2016
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Screening for mucopolysaccharidoses in patients with short stature of unknown etiologyFranco, J. F. / Espinosa, G. L. / Garcia, F. E. et al. | 2016
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Natural history of Fabry disease in male and female patients with the N215S genotypeGermain, D. P. / Brand, E. / Cecchi, F. / Kempf, J. / Laney, D. A. / Linhart, A. / Maródi, L. s. / Shankar, S. P. / Waldek, S. / Wanner, C. et al. | 2016
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Biochemical diagnosis of Sanfilippo syndromes A and B in a Mexican reference centerGarcia-Ortiz, J. E. / Da Silva-José, T. D. / Juarez-Osuna, J. A. / Porras-Dorantes, A. / Ruvalcaba, S. d. et al. | 2016
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A pilot study for newborn screening of metachromatic leukodystrophyGelb, M. H. et al. | 2016
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Haemophagocytic lymphohistiocytosis and other immunological anomalies in infantile onset lysosomal acid lipase deficiencyGhosh, A. / Ashcroft, P. / Jones, S. A. / Döffinger, R. / Schneider, M. / Wynn, R. F. / Hughes, J. / Fecarotta, S. / Jameson, E. / Vara, R. et al. | 2016
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ICAM-1 targeting by direct conjugation enhances gastrointestinal transcytosis and encapsulation enables gastric protection and controlled released for oral enzyme deliveryGhaffarian, R. / Oh, H. / Abouzeidc, A. / Vreelandc, W. / Raghavan, S. / Muro, S. et al. | 2016
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IDUA mutational profile and genotype-phenotype correlations in mucopolysaccharidosis type IGhosh, A. / Mercer, J. / Jones, S. A. / Church, H. / Tylee, K. et al. | 2016
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Chronic myeloid leukemia during enzyme replacement therapy in Gaucher diseaseGiraldo, P. / Noya, M. S. / Irun, P. / Andrade-Campos, M. / Lopez-Fernandez, M. F. et al. | 2016
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Morphological and functional alterations in the non-coronary arterial circulation in Fabry diseaseGiovinale, M. / Verrecchia, E. / Cerrito, L. / Kadhim, C. / Antuzzi, D. / Manna, R. / Flore, R. A. et al. | 2016
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Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustatGiugliani, L. / Van der Linder, V. / Van Der Linden, H. / Lourenço, C. M. / de Araújo Leão, E. l. / Arita, J. H. / Doriqui, M. J. / Neto, P. B. / de Souza, C. F. / Horovitz, D. D. et al. | 2016
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Caveole-mediated uptake of α-galactosidase A in Fabry disease in vitro systemsGoker-Alpan, O. / Ioanou, C. / Changsila, E. / Sejpal, C. / Ivanova, M. et al. | 2016
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Clinical outcomes in idursulfase-treated patients with MPS II: 3-year data from the Hunter Outcome Survey (HOS)Giugliani, R. / Muenzer, J. / Scarpa, M. / Tylki-Szymańska, A. / Jego, V. / Beck, M. et al. | 2016
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Clinical-pathological correlation in Fabry nephropathy in Mexican children based on ISGFNGómez-Tenorio, C. / Soto-Abraham, V. / C, C. D. / García-Bello, J. A. / Ordaz-López, K. / Guerra-Hernández, N. E. / Márquez-Gutierrez, M. A. / Franco-Ornelas, S. et al. | 2016
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Intracerebroventricular administration of BMN 250 to cynomolgus monkeys results in elevated tissue levels and superior biodistribution in the central nervous system in comparison to intravenous deliveryGrover, A. / Shaywitz, A. J. / Wait, J. C. / Melton, A. / O'Neill, C. A. / Pinkstaff, J. et al. | 2016
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Long term survival after gene therapy in a feline model of Sandhoff diseaseGray-Edwards, H. L. / McCurdy, V. J. / Hwang, M. / Randle, A. N. / Johnson, A. K. / Hudson, J. A. / Sena-Esteves, M. / Martin, D. R. et al. | 2016
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One- and two-dimensional NMR investigations of the urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick disease type C1Grootveld, M. / Probert, F. / Ruiz-Rodado, V. / Zhang, X. / te Vruchte, D. / Platt, F. / Clardige, T. D. / Tocchio, A. Z. / Edgar, M. / Lachmann, R. H. et al. | 2016
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Weekly enzyme replacement therapy: a French patient with infantile onset Pompe diseaseGuffon, N. / Fouilhoux, A. et al. | 2016
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Pregnancy, enzyme replacement therapy and mucopolysaccharidosis: successful outcomeGuffon, N. / Azzi, D. / Fouilhoux, A. et al. | 2016
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OpenIDUA: A novel software for simplifying reports of IDUA variants and their clinical significance in MPS IGunderman, A. / Hall, B. / Hackett, P. et al. | 2016
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52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective studyHahn, S. / Pena, L. / Day, J. W. / Gambello, M. / Gibson, J. B. / Hillman, R. / Kronn, D. / Stockton, D. / Leslie, N. / Tanpaiboon, P. et al. | 2016
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Minimum effective dose for immune tolerance induction with an adendo-associated virus vector in Pompe diseaseHan, S. o. / Lewis, M. / Ronzitte, G. / Mingozzi, F. / Koeberl, D. et al. | 2016
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A novel approach to characterization and categorization of infusion reactions associated with ERT using adverse physiology related groupsHaller, C. / Agarwal, S. / Kakkis, E. et al. | 2016
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MRI findings reveal corollaries in brain pathology between murine and human MPS IIIB brainsHeldermon, C. / Gilkes, J. et al. | 2016
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Comparison of echocardiography and cardiac magnetic resonance imaging in the determination of left ventricular mass index in Fabry diseaseHazari, H. / Belenkie, I. / Kryski, A. / White, J. / Oudit, G. / Thompson, R. / Fung, T. / Dehar, N. / Khan, A. et al. | 2016
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Impact of elosulfase alfa in patients with Morquio syndrome type A who have limited ambulation: An open-label, phase 2 studyHarmatz, P. R. / Jester, A. / Mengel, E. / Treadwell, M. / Burton, B. K. / Berger, K. I. / Hendriksz, C. J. / Geberhiwot, T. / Sisic, Z. / Decker, C. et al. | 2016
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Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type AHendriksz, C. J. / Burton, B. K. / AlSayed, M. D. / Giugliani, R. / Guelbert, N. / Hughes, D. / Mealiffe, M. / Mitchell, J. J. / Parini, R. / Raiman, J. et al. | 2016
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Treatment with pentosan polysulphate in patients with mucopolysaccharidosis type I: Results from an open label, randomized, monocentric phase 2 studyHennermann, J. B. / Goekce, S. / Solyom, A. / Mengel, E. / Schuchman, E. H. / Simonaro, C. M. et al. | 2016
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Proteomic analysis of urine reveals potential markers for CLN2 Batten diseaseHeywood, W. E. / Doykov, I. / Sirka, E. / Clayton, R. / Csányi, B. / Cleary, M. / Footitt, E. / Chakrapani, A. / Abulhoul, L. / Grunewald, S. et al. | 2016
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Improvement of Fabry disease related gastrointestinal symptoms in a significant proportion of female patients treated with agalsidase betaHopkin, R. / Feldt-Rasmussen, U. / Martins, A. M. / Ortiz, A. / Weidemann, F. / Lemay, R. / Wilcox, W. R. et al. | 2016
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Impact of social media use in Fabry and Gaucher diseasesHodgkins, A. / Lisi, E. / Ali, N. et al. | 2016
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Adult-onset Niemann-Pick disease type C patients treated with miglustat, the Finnish experienceHietaharju, A. / Makkonen, T. et al. | 2016
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Presence of mutant GBA allele leads to ER stress and development of Parkinson diseaseHorowitz, M. / Maor, G. / Krivoluk, O. / Cabasso, O. et al. | 2016
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Phenotype of Fabry disease in patients with mutations amenable to migalastatHughes, D. / Bichet, D. G. / Germain, D. P. / Giugliani, R. / Schiffmann, R. / Wilcox, W. / Castelli, J. P. / Benjamin, E. / Skuban, N. / Barth, J. et al. | 2016
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Detection of the first manifestation of the very young children with classical Fabry disease: A study based on newborn screeningHsu, T. / Niu, D. M. / Tsai, Y. A. et al. | 2016
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Novel treatment for Fabry disease: IV administration of plant derived alpha-gal-A enzyme safety and efficacy interim reportHughes, D. / Boyd, S. / Giraldo, P. / Gonzalez, D. / Holida, M. / Goker-Alpan, O. / Megawa, G. / Atta, M. / Nicholls, K. / Schiffmann, R. et al. | 2016
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Technical difficulties in the diagnosis of Krabbe leucodystrophy by enzyme analysisHutchin, T. / Terry, F. / Santra, S. / Egerton, C. / Church, H. / Preece, M. A. et al. | 2016
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Bone marrow transplantation treatment for a 4year old asymptomatic patient with metachromatic leukodystrophy (MLD)Inbar-Feigenberg, M. / Hewson, S. / Raiman, J. et al. | 2016
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Autophagy lysosome pathway and mitochondrial crosstalk in Gaucher diseaseIvanova, M. / Changsila, E. / Badger, A. / Iaonou, C. / Goker-Alpan, O. et al. | 2016
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Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new casesImrie, J. / Mengel, K. E. / Cassiman, D. / Mabe, P. / Al-Sayed, M. / Bembi, B. / Giugliani, R. / Packman, S. / Schiff, M. / Takahashi, T. et al. | 2016
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Immune tolerization to treat inhibitors to enzyme replacement therapy in Hunter syndrome using a non-immunosuppressing regimenUtz, J. J. / Karimian, Z. / Whitley, C. B. et al. | 2016
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Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosisGiugliani, R. / Fietz, M. / Al-Sayed, M. / Burke, D. / Cohen-Pfeffer, J. / Cooper, J. D. / de Halac, I. N. / Dvořáková, L. / Izzo, E. / Jahnová, H. et al. | 2016
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Initial characterization of a murine model of Sanfilippo syndrome type IIID shows similar pathology to other murine models of Sanfilippo syndromeJamil, M. / Snella, E. M. / Le, S. Q. / Kan, S. H. / Birtcil, B. C. / Dickson, P. I. / Ellinwood, N. M. / Smith, J. D. et al. | 2016
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Improved diagnostics for Niemann-Pick disease type C based on a novel bile acid biomarkerJiang, X. / Sidhu, R. / Dietzen, D. J. / Farhat, N. Y. / Porter, F. D. / Schaffer, J. E. / Ory, D. S. et al. | 2016
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Validation of a kinematic assessment of cerebellar dysfunction in the canine model of mucopolysaccharidoses type IIIB (MPS IIIB)Jeffery, N. / Safayi, S. / Johnson, B. / Matthew Ellinwood, N. et al. | 2016
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Reduced chondrocyte proliferation and hypertrophy contribute to delayed endochondral bone formation in murine mucopolysaccharidosis VIIJiang, Z. / Rossouw, C. / Reichstein, C. / Macsai, C. E. / Jackson, M. R. / Derrick-Roberts, A. L. / Byers, S. et al. | 2016
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Comparison of integrated white blood cell alpha-galactosidase a activity exposure between every-other-day orally administered migalastat and biweekly infusions of agalsidase beta or agalsidase alfaJohnson, F. K. / Valenzano, K. / Castelli, J. et al. | 2016
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Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up dataJones, S. A. / Brassier, A. / Hughes, J. / Plantaz, D. / Vara, R. / Breen, C. / Jay Gargus, J. / Valayannopoulos, V. et al. | 2016
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B- and T-cell immune suppression in a Native American infant with Wolman diseaseJulien, D. / Wong, D. W. / Miloh, T. / Clarke, D. / Aleck, K. / Lindstrom, K. et al. | 2016
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Enzyme replacement therapy carries for 4-7years in Fabry disease thereafter quality of life decreasesKantola, I. I. / Annala, A. P. / Helio, T. / Hietaharju, A. / Kananen, K. / Kantola, T. / Karhu, A. / Kuusisto, J. / Rainto, M. / Saarinen, J. T. et al. | 2016
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Reduced glucocerebrosidase activity improves acid ceramidase deficient miceKamani, M. A. / Sun, Y. / Medin, J. A. et al. | 2016
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Retrospective survey of late onset Tay-Sachs diseaseAmel Karaa, A. / Haxton, E. / Yerramilli-Rao, P. / Giannikopoulos, O. / Pollak, L. / Morgan, A. / Sharma, N. / Kubilus, K. / Khan, S. / Sathe, S. et al. | 2016
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Characterizing infusion reactions to intravenous enzyme replacement therapy: establishing temporal relationships for effective management strategiesKarimian, Z. F. / Whitley, C. B. / Jarnes Utz, J. R. et al. | 2016
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Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategyKazi, Z. B. / Desai, A. K. / Erwin, A. / Makris, C. / Troxler, B. / Kronn, D. / Packman, S. / Sabbadini, M. / Nuoffer, J. M. / Weisfeld-Adams, J. et al. | 2016
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Characterization of oxidative stress and inflammation in type1 Gaucher disease-method evaluation and preliminary analysisKartha, R. V. / Elnashar, G. / Hovde, L. / Mishra, U. / Utz, J. / Cloyd, J. C. et al. | 2016
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Differentially expressed proteins in infantile Pompe disease: prediction of patients likely to mount an immune response to enzyme replacement therapyKazi, Z. B. / Desai, A. K. / Mori, M. / Dua, K. / Thompson, J. W. / Lucas, J. / Moseley, A. / Kishnani, P. S. et al. | 2016
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Pseudodeficiency of alpha-iduronidase is a common finding identified from newborn screening in the state of IllinoisKeating, K. G. / Whiteaker, L. / Corkery, J. / Charrow, J. / Burton, B. et al. | 2016
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Co-administration of the pharmacological chaperone AT2221 with a proprietary recombinant human acid alfa-glucosidase leads to greater plasma exposure and substrate reduction compared to alglucosidase alfaKhanna, R. / Xu, S. / Hilliard, D. / Lun, Y. / Schilling, A. / Soska, R. / Nair, A. / Chang, K. / Feng, J. / Frascella, M. et al. | 2016
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Emotional-behavioral functioning in individuals with MPS I: A longitudinal approachKing, K. / Shapiro, E. / Rudser, K. / Whitley, C. B. et al. | 2016
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Adeno-associated virus 9 gene therapy for juvenile neuronal ceroid lipofuscinosisKielian, T. / Bosch, M. E. / Aldrich, A. / Fallet, R. / Foust, K. D. et al. | 2016
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Natural history of Hurler syndromeKiely, B. T. / Poe, M. D. / Escolar, M. L. et al. | 2016
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Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe diseaseKishnani, P. S. / Day, J. W. / Gambello, M. / Gibson, J. B. / Hillman, R. / Kronn, D. / Leslie, N. / Pena, L. / Stockton, D. W. / Tanpaiboon, P. et al. | 2016
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Development of heat shock protein based therapies for lysosomal diseasesKirkegaard, T. et al. | 2016
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Bone mineral density in Morquio syndrome type BKubaski, F. / Kecskemethy, H. H. / Harcke, T. / Tomatsu, S. et al. | 2016
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Hematopoietic stem cell transplantation and ERT for Hunter syndromeKubaski, F. / Guha, A. / Suzuki, Y. / Tanaka, A. / Yabe, H. / Xie, L. / Onsten, T. G. / Leistner-Segal, S. / Giugliani, R. / Mason, R. W. et al. | 2016
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Hematopoietic stem cell transplantation in Morquio syndrome type AKubaski, F. / Mason, R. W. / Yasuyuki, S. / Tomatsu, S. et al. | 2016
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Newborn screening for mucopolysaccharidoses: A pilot study of 2,640 samplesKubaski, F. / Mason, R. W. / Giugliani, R. / Hanai, J. / Xie, L. / van Vlies, N. N. / Church, H. / Yamaguchi, S. / Suzuki, Y. / Orii, T. et al. | 2016
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Development of isogenic human cerebral organoids with beta-galactosidase deficiencyLatour, Y. L. / Thomas, S. E. / Allende, M. L. / Proia, R. L. / Tifft, C. J. et al. | 2016
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AAV9 mediated correction of iduronate-2-sulfatase deficiency in the central nervous system of mucopolysaccharidosis type II miceLaoharawee, K. / Podetz-Petersen, K. M. / Kitto, K. F. / Vulchanova, L. / Fairbanks, C. A. / Kozarsky, K. / Low, W. C. / Scott McIvor, R. et al. | 2016
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The impact of Fabry disease on reproductive fitnessLaney, D. A. / Clark, V. / Holida, M. et al. | 2016
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Evidence of early bone response after initiation of enzyme replacement therapy in a 3year old patient with MPS VIILau, H. A. / Parmar, S. / Ferraris, M. / Haller, C. / Agarwal, S. / Kakkis, E. et al. | 2016
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Wandering spleen in 2 Gaucher patients on enzyme replacement therapy: Diagnosis and managementLau, H. A. / Liang, H. / Elstein, D. / Alberton, J. / Zimran, A. et al. | 2016
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Enzyme replacement therapy with investigational rhGUS in an infant with non-immune hydrops fetalis and mucopolysaccharidosis type VIILau, H. A. / Parmar, S. / Kazachkov, M. / Shah, R. / Wells, J. / Yachelevich, N. / Chopra, A. / Haller, C. / Kakkis, E. et al. | 2016
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Fabry patients after enzyme replacement therapy dose reduction and treatment switch: Renal impairment after 24months follow-upLenders, M. / Canaan-Kühl, S. / Krämer, J. / Duning, T. / Reiermann, S. / Sommer, C. / Stypmann, J. r. / Blaschke, D. / Üçeyler, N. / Hense, H. W. et al. | 2016
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Accumulation of MPS GAG influences stem cell differentiationLehmann, R. / Roberts, A. D. / Byers, S. et al. | 2016
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Utilizing activity assays and population-wide allele frequencies to assess the contribution of novel mutations in NAGLU to MPS IIIB incidenceLeBowitz, J. H. / Clark, W. T. / Karen Yu, G. / Aoyagi-Scharber, M. et al. | 2016
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Combination therapy increases lifespan and improves clinicobehavioral performance in the murine model of globoid cell leukodystrophyLi, Y. / Shea, L. K. / Jiang, X. / Gray, S. J. / Ory, D. S. / Sands, M. S. et al. | 2016
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Clinical characteristics and demographics in patients 50years and older in the Fabry Outcome Survey (FOS)Lidove, O. / Barbey, F. d. / Niu, D. M. / Brand, E. / Nicholls, K. / Bizjajeva, S. / Hughes, D. et al. | 2016
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Antibody-mediated inhibition of enzyme replacement therapy in Fabry disease results in impaired cardiac and renal functionLenders, M. / Stypmann, J. r. / Duning, T. / Schmitz, B. / Brand, S. M. / Brand, E. et al. | 2016
- S74
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Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case reportLisi, E. C. / Foley, A. / Shankar, S. et al. | 2016
- S74
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Baffling brain MRI findings in a patient with Gaucher diseaseLong, V. / Soares, B. / Shankar, S. et al. | 2016
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Selective large scale screening for lysosomal disease in minority groups shows higher incidence ratesLimgala, R. P. / Sejpal, C. / Cross, C. / Tang, B. / Mollajafar, M. / Fidelia-Lambert, M. N. / Gondré-Lewis, M. C. / Goker-Alpan, O. et al. | 2016
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Acid ceramidase deficiency leads to multiple skin abnormalities in a mouse model of Farber diseaseLopez-Vasquez, L. / Dworski, S. / Pouliot, R. / Galbraith, T. / Kamani, M. A. / Lacroix, D. / Auger, F. o. / Medin, J. A. et al. | 2016
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Descriptive report of the variant adult visceral form non-neuronopathic of Νiemann-Ρick type C disease in a Spanish seriesde Frutos, L. L. / Alfonso, P. / Irún, P. / Cebolla, J. J. / Ballesteros, I. / Venegas, N. / Barez, A. / Villarrubia, J. s. / Calderón, E. / Clavel, J. et al. | 2016
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Evaluation of suspicion index and plasma biomarkers as efficient tool in the diagnosis of Νiemann-Ρick disease type Cde Frutos, L. L. / Alfonso, P. / Cebolla, J. J. / Irún, P. / Giraldo, P. et al. | 2016
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Screen and identification of small molecules therapies to reduce elevated psychosine levels in globoid-cell leukodystrophyMaegawa, G. H. / Jang, D. S. / Tian, G. / Solomon, M. / Bongarzone, E. / Moser, A. / Maegawa, G. et al. | 2016
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Regulated lysosomal exocytosis mediates cancer progressionMachado, E. / van de Vlekkert, D. / Annunziata, I. / d'Azzo, A. et al. | 2016
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Examining the psychosocial impact of carrying the p.A143T variant in the GLA geneMacklin, S. / Laney, D. / Atherton, A. / Peck, D. / Manwaring, L. / Christensen, K. et al. | 2016
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Enhanced lysosomal enzyme delivery across the blood-brain barrier by modulating the valency of ICAM-1-targeted nanocarriersManthe, R. L. / Schuchman, E. H. / Muro, S. et al. | 2016
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The impact of fever and dystermia in Fabry disease diagnosis: A retrospective analysisManna, R. / Antuzzi, D. / Ricci, R. / Feliciani, C. / Rigante, D. / Verrecchia, E. et al. | 2016
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Gaucher disease and heterozygous beta thalassemia: A rare case of coinheritanceMakis, A. / Pappa, E. / Kyrochristos, I. / Chaliasos, N. / Tzoufi, M. / Siamopoulou, A. et al. | 2016
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Rapid detection system of glycosaminoglycans with small amount of urine samples for high-risk screening of mucopolysaccharidosesMashima, R. / Kosuga, M. / Sakai, E. / Tanaka, M. / Okuyama, T. et al. | 2016
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis iMartins, A. M. / Acosta, A. X. / Giugliani, R. / Hlavatá, A. / Hlavatá, K. / Tchan, M. C. / Barth, A. L. / Cardoso, L. / de Araújo Leão, E. K. / Esposito, A. C. et al. | 2016
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Identification of new biomarkers suitable for an early diagnosis of Niemann-Pick C1Mazzacuva, F. / Mills, P. B. / Mills, K. / Platt, F. / Maekawa, M. / Porter, F. D. / Clayton, P. T. et al. | 2016
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Design of a phase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for mucopolysaccharidosis type IIIBMcBride, K. L. / Truxal, K. / McNally, K. / Kunkler, K. / Sherrod-Canaan, T. / Aylward, S. / Miller, T. / Zumberge, N. / Martin, L. / Corridore, M. et al. | 2016
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Deficiency of intestinal disaccharidases and miglustat in Gaucher disease patientsEngay, B. M. / Irún, P. I. / Campos, M. M. / Mieras, M. P. / Giraldo, P. et al. | 2016
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Quantity and structure of stored heparan sulfate may affect the nature and course of neuronopathic disease in mucopolysaccharidosis type I and mucopolysaccharidosis type IIIMeijer, O. L. / Wagemans, T. / van Lenthe, H. / Wijburg, F. A. / van Vlies, N. et al. | 2016
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Functional correction of mucopolysaccharidosis I in adult mice by a systemic rAAV9-IDUA gene deliveryMeadows, A. / Camboni, M. / Waligura, K. / Murrey, D. / McCarty, D. M. / Fu, H. et al. | 2016
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Longitudinal changes in linear growth and BMI in the mucopolysaccharidosesMiller, B. S. / Fung, E. B. / Kaizer, A. / Rudser, K. B. / Whitley, C. B. / Polgreen, L. E. et al. | 2016
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Effects of velaglucerase alfa on bone-related pathology in patients with type 1 Gaucher disease: Design and methods of a 2-year open-label phase 4 studyMellgard, B. r. / Hughes, D. / Qin, Y. / Deegan, P. et al. | 2016
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Reducing neuroinflammation in globoid cell leukodystrophy by targeting the JAK/STAT pathwayMikulka, C. R. / Qin, H. / Benveniste, E. N. / Sands, M. S. et al. | 2016
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Farber disease: Implications of anti-inflammatory treatmentMitchell, J. / Solyom, A. / Makay, B. / Arslan, N. / Batu, E. D. / Ozen, S. / Hügle, B. / Schuchman, E. / Magnusson, B. et al. | 2016
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The α-galactosidase A-deficient rat: Characterization of a new animal model of Fabry diseaseMiller, J. J. / Aoki, K. / Tiemeyer, M. / Dahms, N. M. et al. | 2016
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Factors that influence an individual's or parent's willingness to follow a prescribed treatment plan for Fabry diseaseMiller, K. et al. | 2016
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Fabry disease and membranous nephropathy: Case reportMonte Neto, J. T. / Filho, D. S. / Chaves, R. V. / Aldeman, N. L. / Reis, M. A. / Hadad Monte, S. J. et al. | 2016
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Uptake and lysosomal delivery of recombinant human alpha-n-acetylglucosamine-6-sulfatase to mucopolysaccharidosis IIID fibroblastsMoen, D. R. / Zhang, X. / Shin-hsin, K. / Wood, J. / Ekins, S. / Chou, T. F. / Dickson, P. et al. | 2016
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2-year experience of newborn screening of Pompe disease in a Japanese regionMomosaki, K. / Nakamura, K. / Yoshida, S. / Endo, F. et al. | 2016
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A phase II/III intrathecal enzyme replacement therapy clinical trial for MPS II patients with cognitive impairmentMuenzer, J. / Burton, B. K. / Harmatz, P. / Villarreal, M. L. / Amartino, H. n. / Ruiz-Garcia, M. / Gutiérrez-Solana, L. G. / Sciarappa, K. / Alexanderian, D. / Jones, S. A. et al. | 2016
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Identification of modifier genes of Pompe disease phenotype by variant analysis of whole exome sequencing dataMori, M. / Kazi, Z. B. / Zhu, X. / Barrier, K. / Austin, S. / Cirulli, E. T. / Kishnani, P. S. et al. | 2016
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Multiplexed enzyme testing in cases of suspected Gaucher disease – Niemann-Pick disease type A/B as differential diagnosisMurko, S. / Cobos, P. N. / Lukacs, Z. et al. | 2016
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Differential acyl chain storage of multiple glycosphingolipids in mice with Fabry diseaseNagree, M. S. / Kamani, M. A. / Provencal, P. / Boutin, M. / Pacienza, N. / Fan, X. / Novak, A. / Binnington, B. / Auray-Blais, C. / Lingwood, C. A. et al. | 2016
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Clinical outcome following hematopoietic stem cell transplantation in two patients with Hunter syndromeMuschol, N. M. / Köhn, A. F. / Ullrich, K. / Müller, I. et al. | 2016
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Possibilities for an early diagnosis of CLN2-diseaseMurko, S. / Santer, R. / Kohlschuetter, A. / Nickel, M. / Schulz, A. / Lukacs, Z. et al. | 2016
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pH-responsive pharmacological chaperones for lysosomal diseaseNarita, A. / Higaki, K. / Fernández, J. M. / Mellet, C. O. et al. | 2016
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Podocyte globotriaosylceramide (GL-3) content in male adult patients with Fabry disease reduces following 6-12 months of treatment with migalastatNajafian, B. / Sokolovskiy, A. / Barth, J. / Castelli, J. / Williams, H. / Mauer, M. et al. | 2016
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Find-GEMS (Gaucher patients in epilepsy and myoclonus): screening for Gaucher disease with enzyme assay among patients with early-onset seizuresNakamura, K. / Momosaki, K. / Yoshida, S. i. / Matsumoto, S. / Mitsubuchi, H. et al. | 2016
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Brain MRI patterns in MPS IIIB (Sanfilippo syndrome type B): A longitudinal studyNestrasil, I. / Wakumoto, A. / Rudser, K. / Ahmed, A. / Delaney, K. / Haslett, P. / Harmatz, P. / Mengel, E. / Cleary, M. / Shapiro, E. et al. | 2016
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Follow-up of lysosomal disease patients detected by neonatal screeningNavarrete, J. I. et al. | 2016
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Impaired Fc-gamma and complement receptor mediated phagocytosis in Niemann-Pick disease type C (NPC) macrophagesNewman, S. K. / Platt, N. / Platt, F. M. et al. | 2016
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Revisited later-onset cardiac type Fabry disease: Cardiac damage progresses in silence (experiences from an extremely high prevalent area, Taiwan)Niu, D. M. et al. | 2016
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Chanarin-Dorfman syndrome: A case reportMungan, N. O. / Tuncez, E. / Yilmaz, B. S. / Leblebisatan, G. / Kunt, Z. / Bulut, D. / Kor, D. et al. | 2016
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Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type ΙΙOkuyama, T. / Kosuga, M. / Hirakiyama, A. / Mashima, R. et al. | 2016
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Reduced KCa3.1 channels functions in monocytes/macrophages in Gaucher diseaseOliván-Viguera, A. / Alfonso, P. / Giraldo, P. / Köhler, R. et al. | 2016
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Safety study of sodium pentosan polysulfate for adult patients with mucopolysaccharidosis type IIOrii, K. / Tomatsu, S. / Suzuki, Y. / Solyom, A. / Radsak, M. / Schuchman, E. H. / Simonaro, C. M. / Orii, T. / Fukao, T. et al. | 2016
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Enzyme replacement therapy with α-L-iduronidase and lectin RTB fusion protein in treating murine Hurler syndromeOu, L. / Acosta, W. / Koniar, B. L. / Cooksley, R. D. / Cramer, C. L. / Radin, D. N. / Whitley, C. B. et al. | 2016
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Selection of the optimal lentiviral vector for treating mucopolysaccharidosis IOu, L. / Przybilla, M. J. / Koniar, B. L. / Whitley, C. B. et al. | 2016
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Sleep disordered breathing in treated mucopolysaccharidosis I patients correlates with worsening metabolic biomarkers and inhibitory antibodiesPal, A. R. / Langereis, E. J. / Saif, M. A. / Mercer, J. / Church, H. J. / Tylee, K. L. / Wynn, R. F. / Wijburg, F. A. / Jones, S. A. / Bruce, I. A. et al. | 2016
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The c.253G>A mutation in Fabry disease: Evidence of pathogenicity in a Mexican male patientOvando-Seymour, P. / Fiesco-Roa, M. s. et al. | 2016
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ZFN-mediated correction of murine MPS I model by expression of the human IDUA cDNA from the albumin “safe harbor” locusOu, L. / DeKelver, R. / Tom, S. / Radeke, R. / Rhode, M. / Manning-Bog, A. / Sproul, S. / Przybilla, M. J. / Koniar, B. L. / Podetz-Pedersen, K. M. et al. | 2016
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Use of a radial arm maze to assess cognition in normal and MPS IIIB affected dogsParsons, R. L. / Ellinwood, N. / Zylstra, T. / Greiner, A. / Johnson, B. / Millman, S. et al. | 2016
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Use of the T-maze to assess cognition in normal and MPS IIIB affected dogsParsons, R. L. / Ellinwood, N. M. / Zylstra, T. / Greiner, A. / Johnson, B. / Millman, S. et al. | 2016
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Immune cells attack and neurodegeneration in Gaucher diseasePandey, M. K. / Caballero, M. / Tinch, S. L. / Schroeder, L. M. / Gross, C. / Vorhees, C. / Burrow, T. A. / Grabowski, G. A. et al. | 2016
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The impact of treatment availability on reproduction in Fabry diseasePass, S. / Laney, D. et al. | 2016
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Insight into the pre-diagnosis period of 212 patients with Gaucher disease: Results of the OnePath® US patient surveyPastores, G. M. / Panahloo, Z. / Mehta, A. et al. | 2016
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The impact of taliglucerase alfa in the bone of type I Gaucher diseasePaskulin, L. D. / Bertholdo, D. b. / Vanz, A. P. / Vairo, F. / Vedolin, L. / Schwartz, I. V. et al. | 2016
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C.1898c>G/p.ser633trp IDUA mutation cause an intermediate-to-severe phenotype in mucopolysaccharidosis type I patient: clinical and computational approachPeña-Gomar, I. M. / Rosas-Trigueros, J. L. / Reyes-López, C. A. et al. | 2016
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Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naïve and alglucosidase alfa-treated late-onset Pompe disease patientsPena, L. / Baron, R. / Byrne, B. / Desnuelle, C. / Goker-Alpan, O. / Ladha, S. / Laforet, P. / Mengel, E. / Pestronki, A. / Pouget, J. et al. | 2016
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Generation of Fabry disease kidney cell lines using genome editing by CRISPR/Cas9Pereira, E. M. / da Silva, A. S. / Araújo, A. S. / do Monte, S. J. et al. | 2016
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Exploring signaling pathways in a novel kidney cell model of Fabry diseasePereira, E. M. / Labilloy, A. / da Silva, A. S. / Araújo, A. S. / do Monte, S. J. et al. | 2016
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Low alpha-galactosidase A activity among haemodyalisis patients: Does it correlate with Fabry disease mutations?Pereira, V. G. / Braga, M. C. / Yamamoto, J. U. / Martins, A. M. / Pesquero, J. o. / D'Almeida, V. n. et al. | 2016
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Podocyturia in Fabry diseasePereira, E. M. / da Silva, A. S. / Araújo, A. S. / Neto, J. T. / do Monte, S. J. et al. | 2016
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A Brazilian profile of GLA gene mutations: A review of ten years experience with diagnosis of Fabry diseasePesquero, J. B. / Varela, P. / Motta, F. L. / Gomes, C. P. / Pessoa, J. G. / Marins, M. / Assis, E. A. / Nicolicht, P. / D'Almeida, V. / Martins, A. M. et al. | 2016
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Bone quality in patients with type 1 Gaucher disease: Validation and preliminary results with microindentationPérez-López, J. / Herrera, S. / Díez-Pérez, A. / Ceberio, L. et al. | 2016
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Evaluation of glucosylsphingosine as a biomarker of the eliglustat treatment response in patients with Gaucher disease type 1 (GD1)Judith Peterschmitt, M. / Zhang, K. / Liu, L. / Cox, G. F. et al. | 2016
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Functional outcome measures in pediatric therapeutic intervention: Application and issues in a rare diseasePhillips, D. L. / Leiro, B. et al. | 2016
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High bone turnover is associated with lower bone density in Hurler-Scheie and Hunter syndromes treated with enzyme replacement therapyPolgreen, L. E. / Petryk, A. / Rudser, K. / Kaizer, A. / Scibora, L. / Miller, B. S. / Whitley, C. B. / Fung, E. et al. | 2016
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Beneficial effect of agalsidase beta on long term evolution of patients with Fabry disease and kidney transplantPineda-Galindo, L. F. / Moranchel-García, L. et al. | 2016
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Recommendations for enzyme replacement therapy in classical phenotype of Fabry disease in Latin AmericaPolitei, J. et al. | 2016
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Lysosphingolipids in dried blood spots as biomarkers for lysosomal diseasesPolo, G. / Kolamunnage, T. B. / Burlina, A. P. / Furlan, F. / Celato, A. / Del Rizzo, M. / Giordano, L. / Burlina, A. B. et al. | 2016
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High level of oxysterols in neonatal cholestasis: A pitfall in analysis of biochemical markers for Niemann-Pick disease type CPolo, G. / Burlina, A. P. / Furlan, F. / Kolamunnage, T. / Giordano, L. / Zaninotto, M. / Burlina, A. B. et al. | 2016
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Phase 1/2 evaluation of intrathecal 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease type C1Porter, F. D. / Farhat, N. Y. / Ottinger, E. A. / McKew, J. C. / Weissfeld, L. / Machielse, B. / Berry-Kavis, E. M. / Vite, C. H. / Walkley, S. U. / Ory, D. S. et al. | 2016
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Multiplex MS/MS method to measure MPS II, MPS IIIB, MPS IVA, MPS VI enzyme activities in dried blood spotsPotier, A. / Cournoyer, J. / Trometer, J. / Schermer, M. / Yi, F. / Kumar, N. / Spacil, Z. / Kumar, A. / Liao, H. C. / Gelb, M. H. et al. | 2016
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Alteration of cerebral iron metabolism in Sanfilippo syndromeRackowski, L. / Lefebvre, T. / Karim, Z. / Vitry, S. / Gonnet, F. / Daniel, R. g. / Ausseil, J. et al. | 2016
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Lower extremity edema is common in Fabry disease and diuretics are not an effective treatmentQiao, X. / Berry, L. / Bailey, L. / Jefferies, J. L. / Hopkin, R. J. et al. | 2016
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Vitamin D deficiency in Fabry disease: A single centre, retrospective reviewRamaswami, U. / Marino, J. / Mckie, M. / Mehta, A. / Hughes, D. et al. | 2016
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Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysisRamaswami, U. / Beck, M. / Hughes, D. / Kampmann, C. / Bizjajeva, S. / Pintos-Morell, G. / West, M. / Niu, D. M. / Nicholls, K. / Giugliani, R. et al. | 2016
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Pompe disease: From pathophysiology to therapy and back againRaben, N. et al. | 2016
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Looking for predictors of mortality in patients with Fabry disease on enzyme replacement therapyReisin, R. / Ferrari, G. / Kisinovsky, I. / Neumann, P. / Caceres, G. / Azcurra, Z. / Gastaldi, A. / Palombo, M. / Choua, M. / Forrester, M. et al. | 2016
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Clinical diagnosis of Gaucher disease type 3 with a rare genotypeReed, D. A. / Liao, J. / Stauffer, C. / Kornreich, R. / Yang, A. C. et al. | 2016
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Potential roles of glucosylceramide and glucosylsphingosine in bone metabolism and multiple myelomaReed, M. / Hughes, D. A. et al. | 2016
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Thirty-year follow-up in Hurler syndrome after hematopoietic cell transplantation: The University of Minnesota experienceRodgers, N. J. / Orchard, P. J. / Rudser, K. D. / Kaizer, A. M. / Braunlin, E. A. et al. | 2016
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Comparative study on α-galactosidase A (GLA) genetic variants with unknown clinical significanceHitoshi Sakuraba, H. / Togawa, T. / Tsukimura, T. / Saito, S. et al. | 2016
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Exosome-mRNA (EXERNA) therapy for Pompe diseaseSafdar, A. / Nilsson, M. / Akhtar, M. / Tarnopolsky, M. et al. | 2016
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The risks of positive findings while screening for Fabry disease in high risk populationsSalas-Pérez, G. / Sierra-Pineda, F. t. / Sánchez-Ortega, A. / García-Pérez, J. C. / Rodríguez, G. L. / Gómez-Peña, R. / Radillo-Díaz, P. F. et al. | 2016
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Exome sequencing thechnology for diagnosis on mucopolysaccharidosis at Colombian populationsSanchez, A. / Satizabal, J. M. / Moreno, L. J. et al. | 2016
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Transitional mutation’s cluster C>T and T>C on a Colombian population affected with mucopolysaccharidosisSanchez, A. / Satizabal, J. M. / Garcia, F. / Moreno, L. J. / Montoya, J. C. et al. | 2016
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Moss-aGal: Preclinical evaluation of a plant made enzyme replacement for Fabry diseaseSchaaf, A. / Shen, J. S. / Frischmuth, T. / Schiffmann, R. et al. | 2016
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Glucosylceramide synthase inhibition reduces α-synuclein pathology and improves cognition in murine models of synucleinopathyPablo Sardi, S. / Viel, C. / Clarke, J. / Treleaven, C. / Park, H. / Dodge, J. / Marshall, J. / Cromwell, M. / Leonard, J. / Wang, B. et al. | 2016
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Compromised satellite cell activation contributes to continued muscle wasting in Pompe diseaseSchaaf, G. / van Gestel, T. / Brusse, E. / Verdijk, R. M. / de Coo, I. F. / van Doorn, P. A. / van der Ploeg, A. T. / Pijnappel, P. W. et al. | 2016
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A 5-year neurological natural history of mucolipidosis type IVSchiffmann, R. / Wakumoto, A. / Svatkova, A. / Mayfield, J. / Rodriguez-Rivera, M. / Swift, C. / Nestrasil, I. et al. | 2016
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Cartilage and bone disease in a mouse model of Farber lipogranulomatosis and response to treatmentSchuchman, E. H. / Frohbergh, M. / Guevara, J. M. / He, X. / DeAngelis, V. A. / Simonaro, C. M. et al. | 2016
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Expert opinion on the management of CLN2 diseaseSchulz, A. / Adams, H. R. / Blohm, M. / Cohen-Pfeffer, J. L. / de los Reyes, E. / Denecke, J. / Drago, K. / Fairhurst, C. / Frazier, M. / Guelbert, N. et al. | 2016
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The performance characteristics of a 6-plex assay for the detection of six lysosomal diseases and preliminary data for the detection of MPS II, MPS IVA and MPS VIRonald Scott, C. / Elliott, S. / Spacil, Z. / Masai, S. / Liu, Y. / Liao, H. C. / Kumar, A. B. / Chennamaneni, N. / Buroker, N. / Huang, J. Y. et al. | 2016
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Deletion of sialidase NEU3 causes progressive neurodegeneration in Tay-Sachs miceSeyrantepe, V. et al. | 2016
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Eye findings in Fabry disease and correlation with disease severityShankar, S. P. / Bradley, A. / Gillespie, S. / Stelton, C. / Kharod-Dholakia, B. / Laney, D. / Yan, J. et al. | 2016
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Psychosine as a biomarker for Krabbe diseaseShawgo, E. P. / Poe, M. D. / Matern, D. / Turgeon, C. T. / Escolar, M. L. et al. | 2016
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Design and rationale of the study programs for BMN 250, a novel enzyme replacement therapy (ERT) for Sanfilippo syndrome type BShaywitz, A. J. / Oh, M. / Kent, S. et al. | 2016
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Importance of common data elements (CDE) for rare disease clinical trialsShapiro, E. G. / Delaney, K. A. et al. | 2016
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Pentosan polysulfate and neuroinflammation in mice with mucopolysaccharidosis type IIIA miceSimonaro, C. M. / Guo, N. / Schuchman, E. H. et al. | 2016
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Two cases with mucopolysaccharidosis type VIISivri, S. / Pektas, E. / Yildiz, Y. / Dursun, A. / Tokatli, A. / Coskun, T. et al. | 2016
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Sortilin expression and uptake of α-galactosidase A: A general mechanism of endocytosis in Fabry disease cell typesShen, J. S. / Day, T. S. / Meng, X. L. / Liu, Z. P. / Schiffmann, R. et al. | 2016
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An examination of the current metabolic education curriculum across genetic counseling training programs in the United States and CanadaSmith, E. / Vockley, C. W. et al. | 2016
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Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patientsSolyom, A. / Mitchell, J. / Ehlert, K. / Tanpaiboon, P. / Magnusson, B. / Grigelioniene, G. / Hügle, B. / Guelbert, N. / Arslan, N. / Makay, B. et al. | 2016
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Attenuated mucopolysaccharidosis II; Parental beliefs about the impact of disease on the quality of life of their childrenSoni-Jaiswal, A. / Roberts, J. / Jones, S. A. / Bruce, I. A. / Callery, P. et al. | 2016
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Hearing loss in mucopolysaccharidosis and its impact on quality of life; A review of the literatureSoni-Jaiswal, A. / Jones, S. A. / Callery, P. / Bruce, I. A. et al. | 2016
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Clinical features and outcomes in multiple sulfatase deficiency: A single centre experienceSreekantam, S. / Simmons, L. / Hutchins, T. / Wassmer, E. / Vijay, S. / Raiman, J. / Santra, S. et al. | 2016
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One-year data from the Space4u2talk Emotional Well-being ProgrammeSouthall, R. C. / Hendriksz, C. / Naughton, A. / Ellis, L. M. et al. | 2016
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Mucopolysaccharidosis I: Parental beliefs about the impact of disease on the quality of life of their childrenSoni-Jaiswal, A. / Mercer, J. / Jones, S. A. / Bruce, I. A. / Callery, P. et al. | 2016
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Pregnancy in individuals with mucopolysaccharidosis (MPS): A case seriesStewart, F. / Harmatz, P. / Braunlin, E. / Bentley, A. / Burton, B. / Guffon, N. / Hale, S. / Johnston, T. / Kircher, S. / Kochhar, P. et al. | 2016
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Cathepsin-mediated alterations in TGF-beta related signaling underlie the cartilage and bone defects associated with impaired lysosomal targetingSteet, R. / Flanagan-Steet, H. / Aarnio, M. / Kwan, B. / Guihard, P. / Petrey, A. / Haskins, M. / Blanchard, F. et al. | 2016
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Management of fertility and pregnancy in individuals with mucopolysaccharidosis (MPS)Stewart, F. / Harmatz, P. / Braunlin, E. / Bentley, A. / Burton, B. / Guffon, N. / Hale, S. / Johnston, T. / Kircher, S. / Kochhar, P. et al. | 2016
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Quantitative analysis of the proteome response to histone deacetylase inhibitor in Niemann-pick type C1 diseaseSubramanian, K. / Rauniyar, N. / Yates, J. R. / Balch, W. E. et al. | 2016
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New perspectives for ERT in Pompe disease: Extending the action of the enzyme to cytosolic targetsSun, B. / Sun, T. / Armstrong, D. / Yi, H. / Yang, C. / Austin, S. / Kishnani, P. S. et al. | 2016
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Velaglucerase alfa enzyme replacement therapy in children and adolescents with type 3 Gaucher disease: Results of a 12-month multicenter, open-label phase 1/2 studyTantawy, A. A. / El-Beshlawy, A. / Marzouk, I. / Bavdekar, A. / Qin, Y. / Mellgard, B. r. / Turkia, H. B. et al. | 2016
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Reversal of lysosomal storage and inflammation in brain of adult MPS IIIA male mice with intravenous glycan modified sulfamidaseGelius, S. S. et al. | 2016
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Swallow prognosis and follow up protocol in infantile Pompe diseaseSwift, G. / Cleary, M. / Lozano, S. / Ryan, M. / Grunewald, S. / Abulhoul, L. / Footitt, E. / Davison, J. et al. | 2016
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Exosome-mRNA therapy for Gaucher diseaseTarnopolsky, M. / Rupar, T. / Rip, J. / Nazli, A. / Safdar, A. et al. | 2016
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Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type CTarnopolsky, M. / Rupar, T. / Nazli, A. / Safdar, A. et al. | 2016
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Measurement of glycosphingolipids by means of tandem mass spectrometry and evaluation of them as a biomarker of Fabry diseaseTogawa, T. / Kodama, T. / Tsukimura, T. / Kawashima, I. / Tanaka, T. / Shiga, T. / Sato, A. / Sakuraba, H. et al. | 2016
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Meningioma in Fabry disease: Three case reports and a review of the literature on malignancies in patients with metabolic lipid disordersThurberg, B. L. / Germain, D. P. / Perretta, F. / Benistan, K. / Politei, J. M. et al. | 2016
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Activity of daily living for Morquio syndrome type ATomatsu, S. / Yasuyuki, S. / Yasuda, E. / Orii, T. / Sawamoto, K. et al. | 2016
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Morquio syndrome type A airway and anesthetic considerationsTomatsu, S. / Goff, C. J. / Mackenzie, W. G. / Brislin, R. / Reilly, J. S. / Theroux, M. et al. | 2016
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Obstructive airway in mucopolysaccharidosis IVATomatsu, S. / Averill, L. W. / Pizarro, C. / Theroux, M. / Sawamoto, K. / Orii, T. et al. | 2016
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Surgical reconstruction for severe tracheal obstruction in Morquio syndrome type ATomatsu, S. / Pizarro, C. / Davies, R. R. / Spurrier, E. A. / Theroux, M. et al. | 2016
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Hematopoietic stem cell transplantation for Morquio syndrome type ATomatsu, S. / Yabe, H. / Tanaka, A. / Chinen, Y. / Kato, S. / Suzuki, Y. / Orii, T. et al. | 2016
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Prospective natural history study of mucopolysaccharidosis types IIIA and IIIB (Sanfilippo syndrome)Truxal, K. / McBride, K. L. / McNally, K. / Kunkler, K. / Twersky, J. / Grimes, R. / Sherrod-Canaan, T. / Aylward, S. / Alfano, L. / Berry, K. et al. | 2016
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Biomarker analysis of Fabry disease patient cell fractions using tandem mass spectrometryToupin, A. / Lavoie, P. / Boutin, M. / Abaoui, M. / Côté, A. M. / Maranda, B. / Geraldes, P. M. / Auray-Blais, C. et al. | 2016
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Anti-α-galactosidase A antibodies and serum-mediated inhibition in Fabry diseaseTsukimura, T. / Shibasaki, F. / Shigenaga, M. / Togawa, T. / Sakuraba, H. et al. | 2016
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Screening for Fabry disease using dried blood spots in clinically relevant patient populations over six yearsTylee, K. L. / Agoreyo, S. / Egerton, C. / Parkes, O. / Church, H. J. et al. | 2016
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Combined analysis of glucosylsphingosine, lyso-sphingomyelin, cholestane-3β,5α,6β-triol, and 7-ketocholesterol in plasma for Gaucher and Niemann-Pick disease types A, B, and CTurgeon, C. / Matern, D. / Rinaldo, P. / Gavrilov, D. / Oglesbee, D. / Tortorelli, S. / Raymond, K. et al. | 2016
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Characteristics of patients with MPS II diagnosed at a very young age: Data from the Hunter Outcome Survey (HOS)Tylki-Szymańska, A. / Ficicioglu, C. / Morin, I. / Jurecka, A. / Burton, B. K. et al. | 2016
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Pigmentary retinopathy as first manifestation in two cases of Scheie syndromeUrbanski, G. / Barth, M. / Gury, A. / Leruez, S. p. / Baufreton, C. / De Brux, J. L. / Zanlonghi, X. / Bonneau, D. / Lavigne, C. et al. | 2016
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Molecular analysis of 22 patients with mucopolysaccharidosis IVA from Poland, Belarus and Kazakhstan identifies 6 novel GALNS mutationsTylki-Szymańska, A. / Różdżyńska-Świątkowska, A. / Marucha, J. / Kulpanovich, A. / Tulebayeva, A. / Jurecka, A. et al. | 2016
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Phase 1 safety and pharmacokinetics of the novel enzyme replacement therapy neoGAA in treatment-naïve and alglucosidase alfa-treated late-onset Pompe disease patientsLadha, S. / Laforet, P. / Mengel, E. / Pestronk, A. / Pouget, J. / Schoser, B. / Straub, V. / Trivedi, J. / Van Damme, P. / Vissing, J. et al. | 2016
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CCL22 chemokine and platelets in Gaucher diseaseVairo, F. / Paskulin, L. / Cadena, M. / Torres, L. / Schwartz, I. et al. | 2016
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Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type IValayannopoulos, V. / Brassier, A. / Ameddeo, A. / Neven, B. / Caillaud, C. / Chabli, A. / Fernandez-Bolanos, M. / Olmo, J. / Moreau, J. / Fauroux, B. et al. | 2016
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Globotriaosylsphingosine (lyso-GB3) as useful marker for monitoring initial therapeutic outcomes of enzyme replacement therapy for patients with Fabry diseaseVerrecchia, E. / Giovinale, M. / Paolucci, A. / Antuzzi, D. / Manna, R. et al. | 2016
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Patient iPS-derived neural stem cells and neuronal cells as a cell-based model system for Tay-Sachs diseaseVu, M. L. / Li, R. / Zheng, W. et al. | 2016
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Rare defect of plasma hemostasis in patients with mucopolysaccharidosisVashakmadze, N. / Namazova-Baranova, L. / Gordeeva О, O. / Gevorkyan, A. / Botvinyeva, V. / Kuzenkova, L. / Podkletnova, T. et al. | 2016
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Role development for nurse practitioners as primary clinician for the initial evaluation for an abnormal newborn screenVucko, E. / Whiteaker, L. / Widera, S. et al. | 2016
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Enzyme replacement therapy rate escalation in infantile onset Pompe diseaseWalters, C. K. / Kishnani, P. S. et al. | 2016
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Male patients with Fabry disease treated with enzyme replacement therapy: Renal progression rates reflect averaged urine protein to creatinine ratiosWarnock, D. / Banikazemi, M. / Desnick, R. J. / Lemay, R. / Mauer, M. / Politei, J. M. / Waldek, S. / Wanner, C. / Yoo, H. W. et al. | 2016
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Delivering care to the patients: satisfaction among the Finnish Fabry disease patientsWalls, S. / Rainto, M. / Isotalo, A. / Kantola, I. et al. | 2016
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Anti-proteinuric therapy and Fabry nephropathy; factors associated with preserved kidney function during agalsidase-beta therapyWarnock, D. G. / Thomas, C. P. / Vujkovac, B. / Campbell, R. C. / Charrow, J. / Laney, D. A. / Jackson, L. L. / Wilcox, W. R. / Wanner, C. et al. | 2016
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Utility of routine respiratory function testing in a tertiary neuromuscular clinic: A 10-year experienceWencel, M. / Farooque, R. / Rai, S. R. / Mozaffar, F. H. / Wang, A. K. / Cash, T. M. / Chui, L. A. / Goyal, N. A. / Mozaffar, T. et al. | 2016
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A single center’s experience with hematopoietic stem cell transplant in MPS IH from 2002-2015: A retrospective review of variables that may influence transplant outcome and complicationsWehmeyer, C. / Bailey, L. / Berry, L. / Leslie, N. et al. | 2016
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Measurement of urinary glycosaminoglycans via UPLC MS/MS provides increased sensitivity for the diagnosis and therapeutic monitoring of MPS patientsWood, T. / Huang, R. / Hallman, J. / Ellsworth, K. / Pollard, L. et al. | 2016
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Insights into the management of patients with MPS II: Key findings following 10years of the Hunter Outcome Survey (HOS)Whiteman, D. / Giugliani, R. / Scarpa, M. / Tylki-Szymańska, A. / Beck, M. / Larsen, M. P. / Morin, I. / Muenzer, J. et al. | 2016
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The experiences and information requirements of women with a mucopolysaccharide (MPS) or related condition during pregnancy, birth and the postnatal periodWilson, A. / Brandon, R. / Cavell, D. / murphy, E. / Stewart, F. / Thomas, S. / Talaulikar, V. / Wilcox, G. et al. | 2016
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Glycosylation independent lysosomal targeting of alpha-n-acetylglucosaminidase confers highly efficient enzyme uptake into critical cellular targets of disease pathogenesis in mucopolysaccharidosis type IIIBYogalingam, G. / Prill, H. / Lee, A. / Christianson, T. / Tiger, P. M. / Yip, B. K. / Lo, M. J. / Holtzinger, J. / Berguig, G. / Aoyagi-Scharber, M. et al. | 2016
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Evaluation of myeloperoxidase as a targeted enzymatic approach for the elimination of retinal A2E in Stargardt diseaseYogalingam, G. / Lee, A. R. / Mackenzie, D. / Maures, T. J. / Rafalko, A. / Prill, H. / Christianson, T. / Bell, S. M. / LeBowitz, J. H. et al. | 2016
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Quantification of dermatan sulfate and heparan sulfate in cerebrospinal fluid using liquid chromatography-tandem mass spectrometry for therapeutic monitoring of patients with mucopolysaccharidosesZhang, H. / Dickson, P. I. / Chen, A. H. / Weetall, M. / Le, S. Q. / Millington, D. S. / Young, S. P. et al. | 2016
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Niemann-Pick disease type C in the newborn period: Reflections from 10 patientsYuce, A. / Gumus, E. / Haliloglu, G. / Karhan, A. N. / Ardicli, D. / Demir, H. / Gurakan, F. / Topcu, M. et al. | 2016
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A Fabry Outcome Survey (FOS) analysis of cardiac biomarkers and left ventricular hypertrophy in Taiwanese patients with the Chinese hotspot IVS4+919G>A mutation or classical Fabry mutationsYu, W. C. / Hsu, T. R. / Chu, T. H. / Bizjajeva, S. / Niu, D. M. et al. | 2016
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Significant and continuous improvement in quantitative chemical shift imaging (QCSI) in patients with Gaucher disease treated with taliglucerase alfa during the early access programZimran, A. / Dinur, T. / Elstein, D. / Akkerman, E. M. / Hollak, C. E. / Chertkoff, R. / Maas, M. et al. | 2016
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Clinical, biochemical and molecular analysis of five Chinese patients with Sandhoff diseaseZhang, W. / Zeng, H. / Huang, Y. / Xie, T. / Zheng, J. / Zhao, X. / Sheng, H. / Liu, H. / Liu, L. et al. | 2016