The Lysosomal Diseases Testing Laboratory: A review of the past 47 years (English)
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- New search for: Wenger, David A.
- New search for: Luzi, Paola
- New search for: Wenger, David A.
- New search for: Luzi, Paola
In:
JIMD Reports
;
54
, 1
;
61-67
;
2020
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ISSN:
- Article (Journal) / Electronic Resource
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Title:The Lysosomal Diseases Testing Laboratory: A review of the past 47 years
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Contributors:Wenger, David A. ( author ) / Luzi, Paola ( author )
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Published in:JIMD Reports ; 54, 1 ; 61-67
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Publisher:
- New search for: John Wiley & Sons, Inc.
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Publication date:2020-07-01
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Size:7 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 54, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Issue Information| 2020
- 3
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The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantationBerry, Gerard T. / Blume, Elizabeth D. / Wessel, Ann / Singh, Tajinder / Hecht, Leah / Marsden, Deborah / Sahai, Inderneel / Elisofon, Scott / Ferguson, Michael / Kim, Heung Bae et al. | 2020
- 9
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Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiencyKava, Maina P. / Bryant, Leah / Rowe, Peter / Lewis, Barry / Greed, Lawrence / Balasubramaniam, Shanti et al. | 2020
- 16
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PMM2‐CDG caused by uniparental disomy: Case report and literature reviewVaes, Laurien / Tiller, George E. / Pérez, Belén / Boyer, Suzanne W. / Berry, Susan A. / Sarafoglou, Kyriakie / Morava, Eva et al. | 2020
- 22
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An uncommon cause of early infantile liver disease and raised chitotriosidaseSreekantam, Srividya / Rizvi, Hina / Brown, Rachel / Santra, Saikat / Raiman, Julian / Vijay, Suresh / Mckiernan, Patrick J. / Gupte, Girish L. et al. | 2020
- 25
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Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiencyMatarazzo, Lorenza / Ragnoni, Valentina / Malaventura, Cristina / Leon, Alberta / Colavito, Davide / Vigna, Giovanni Battista / Lanza, Giovanni / Sonzogni, Aurelio / Maggiore, Giuseppe et al. | 2020
- 32
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p.P1379S, a benign variant with reduced ATP7B protein level in Wilson DiseaseYi, Fan / Poskanzer, Sheri A. / Myers, Candace T. / Thies, Jenny / Collins, Christopher J. / Dayuha, Remwilyn / Duong, Phi / Houwen, Roderick / Hahn, Si Houn et al. | 2020
- 37
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COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophyJustine Perrin, R. / Rousset‐Rouvière, Caroline / Garaix, Florentine / Cano, Aline / Conrath, John / Boyer, Olivia / Tsimaratos, Michel et al. | 2020
- 45
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Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletionCotta, Ana / Alston, Charlotte L. / Baptista‐Junior, Sidney / Paim, Julia F. / Carvalho, Elmano / Navarro, Monica M. / Appleton, Marie / Ng, Yi Shiau / Valicek, Jaquelin / da‐Cunha‐Junior, Antonio L. et al. | 2020
- 54
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Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two casesAdams, Darius / Midei, Mark / Dastgir, Jahannaz / Flora, Christina / Molinari, Robert J / Heerinckx, Frederic / Endemann, Sarah / Atwal, Paldeep / Milner, Peter / Shchepinov, Mikhail S. et al. | 2020
- 61
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The Lysosomal Diseases Testing Laboratory: A review of the past 47 yearsWenger, David A. / Luzi, Paola et al. | 2020
- 68
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Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationStroek, Kevin / Boelen, Anita / Bouva, Marelle J. / De Sain‐van der Velden, Monique / Schielen, Peter C. J. I. / Maase, Rose / Engel, Henk / Jakobs, Bernadette / Kluijtmans, Leo A. J. / Mulder, Margot F. et al. | 2020
- 79
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A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiencyVáclavík, Jan / Mádrová, Lucie / Kouřil, Štěpán / de Sousa, Julie / Brumarová, Radana / Janečková, Hana / Jáčová, Jaroslava / Friedecký, David / Knapková, Mária / Kluijtmans, Leo A. J. et al. | 2020
- 87
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Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severityKuper, Willemijn F. E. / Oostendorp, Marlies / van den Broek, Brigitte T. A. / van Veghel, Karin / Nonkes, Lourens J. P. / Nieuwenhuis, Edward E. S. / Fuchs, Sabine A. / Veenendaal, Tineke / Klumperman, Judith / Huisman, Albert et al. | 2020