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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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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Beerepoot, Shanice, Nierkens, Stefan, Boelens, Jaap Jan, Lindemans, Caroline, Bugiani, Marianna, Wolf, Nicole I.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Accès en ligne: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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