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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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Beerepoot, Shanice, Nierkens, Stefan, Boelens, Jaap Jan, Lindemans, Caroline, Bugiani, Marianna, Wolf, Nicole I.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2019
Konular:
Review
Online Erişim: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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