Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.

Two siblings of consanguineous parents had presented with a variety of findings indicative of juvenile metachromatic leukodystrophy (MLD). However, instead of the expected profound deficiency of arylsulfatase A (ARS A), their enzyme levels were about half-normal, and enzyme from fibroblasts had prop...

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Hauptverfasser: Stevens, R L, Fluharty, A L, Kihara, H, Kaback, M M, Shapiro, L J, Marsh, B, Sandhoff, K, Fischer, G
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1981
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685162/
https://ncbi.nlm.nih.gov/pubmed/6119902
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