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Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of sulfatides in neural and visceral tissues, and causes demyelination of the central and per...

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Bibliografische gegevens
Gepubliceerd in:Orphanet J Rare Dis
Hoofdauteurs: Beerepoot, Shanice, Nierkens, Stefan, Boelens, Jaap Jan, Lindemans, Caroline, Bugiani, Marianna, Wolf, Nicole I.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6829806/
https://ncbi.nlm.nih.gov/pubmed/31684987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1220-4
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