High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%. Fibroblasts of the patient show significant sulfatide degradation activity exceeding that of adult MLD patients. Analysis of the ARSA gene in this...

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Detaylı Bibliyografya
Asıl Yazarlar: Kreysing, J, Bohne, W, Bösenberg, C, Marchesini, S, Turpin, J C, Baumann, N, von Figura, K, Gieselmann, V
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1993
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682342/
https://ncbi.nlm.nih.gov/pubmed/8101038
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