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Metachromatic leukodystrophy: Disease spectrum and approaches for treatment [PDF]

Best Practice and Research in Clinical Endocrinology and Metabolism, 2015
Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system leading
Nicole Ingeborg Wolf, Jaap Jan Boelens
exaly +2 more sources

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Gallbladder cancer with ascites in a child with metachromatic leukodystrophy

Brain and Development, 2021
Daisuke Tamura, Kazuhiro Muramatsu, Hitoshi Osaka +2 more
exaly

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

Brain, 2022
Marjo van der Knaap +2 more
exaly

Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy

Human Gene Therapy, 2021
Ronald Crystal, Jonathan Dyke, Dolan Sondhi +2 more
exaly

Metachromatic Leukodystrophy – An Update

Neuropediatrics, 2010
V Gieselmann, I Krägeloh-Mann
exaly