Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase B (ASB), also known as N-acetylgalactosamine-4-sulfatase. Multiple clinical phenotypes of this autosomal recessively inherited disease have been described. Re...

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Bibliografiska uppgifter
Huvudupphovsmän: Isbrandt, D., Arlt, G., Brooks, D. A., Hopwood, J. J., von Figura, K., Peters, C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1994
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918135/
https://ncbi.nlm.nih.gov/pubmed/8116615
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