Results 81 to 90 of about 11,658 (188)

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy

Frontiers in Endocrinology, 2018
Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system.
Gilda Belli, Emanuele Bartolini, Emanuele Bartolini, Andrea Bianchi, Mario Mascalchi, Mario Mascalchi, Stefano Stagi   +6 more
doaj   +1 more source

A closer look at ARSA activity in a patient with metachromatic leukodystrophy

Molecular Genetics and Metabolism Reports, 2019
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Kathleen Doherty, S. Barron Frazier, Matthew Clark, Anna Childers, Sumit Pruthi, David A. Wenger, Jessica Duis   +6 more
doaj  

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

The Lancet, 2022
F. Fumagalli, Valeria Calbi, Maria Grazia Natali Sora, M. Sessa, C. Baldoli, P. Rancoita, F. Ciotti, M. Sarzana, M. Fraschini, A. Zambon, S. Acquati, D. Redaelli, Vanessa Attanasio, S. Miglietta, Fabiola De Mattia, F. Barzaghi, F. Ferrua, M. Migliavacca, F. Tucci, V. Gallo, U. Del Carro, Sabrina Canale, I. Spiga, L. Lorioli, S. Recupero, E. Fratini, F. Morena, P. Silvani, M. Calvi, M. Facchini, S. Locatelli, Ambra Corti, S. Zancan, G. Antonioli, Giada Farinelli, M. Gabaldo, J. Garcia-Segovia, L. Schwab, G. Downey, M. Filippi, M. Cicalese, S. Martino, C. Di Serio, F. Ciceri, M. Bernardo, L. Naldini, A. Biffi, A. Aiuti   +47 more
semanticscholar   +1 more source

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study

Molecular Genetics and Metabolism Reports
Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions.
Yuta Koto, Wakana Yamashita, Norio Sakai
doaj  

Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder

Neurobiology of Disease, 2004
Metachromatic leukodystrophy (MLD) is a lysosomal lipid storage disease caused by arylsulfatase A deficiency. In MLD patients the sphingolipid sulfatide increasingly accumulates leading to progressive demyelination.
K Saravanan, N Schaeren-Wiemers, D Klein, R Sandhoff, A Schwarz, A Yaghootfam, V Gieselmann, S Franken   +7 more
doaj  

Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale

Journal of Patient-Reported Outcomes, 2018
Background Metachromatic leukodystrophy (MLD) is a rare disease with three forms based on the age at onset of signs and symptoms. The objective of this study was to develop a caregiver-reported clinical outcome assessment that measures impairments in ...
T. Michelle Brown, Susan Martin, Sheri E. Fehnel, Linda S. Deal   +3 more
doaj   +1 more source

Developing therapeutic approaches for metachromatic leukodystrophy

Drug Design, Development and Therapy, 2013
Shilpa A Patil,1 Gustavo HB Maegawa1,2 1McKusick-Nathans Institute of Genetic Medicine, 2Department of Pediatrics, The Johns Hopkins School of Medicine, Baltimore, MD, USA Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal ...
Patil SA, Maegawa GHB
doaj  

Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry[S]

Journal of Lipid Research, 2015
Sulfatides are found in brain as components of myelin, oligodendrocytes, and neurons but are also present in various visceral tissues. Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A,
Mina Mirzaian, Gertjan Kramer, Ben J.H.M. Poorthuis   +2 more
doaj  

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.

Molecular Genetics and Metabolism, 2022
V. Santhanakumaran, S. Groeschel, K. Harzer, C. Kehrer, Saskia Elgün, S. Beck-Wödl, H. Hengel, L. Schöls, T. Haack, I. Krägeloh-Mann, L. Laugwitz   +10 more
semanticscholar   +1 more source

A study on enzyme activities of some sphingolipidoses

The Turkish Journal of Pediatrics, 1994
Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male.
H A Ozkara, M C Arikan, M Topçu, S Emre, Y Renda   +4 more
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