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METACHROMATIC LEUKODYSTROPHY: ARYLSULFATASE-A DEFICIENCY IN SKIN FIBROBLAST CULTURES

Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Porter, Myna T., Fluharty, Arvan L., Kihara, Hayato
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1969
Fag:
Biological Sciences: Biochemistry
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC223681/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5257010/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.62.3.887
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