Fucosidosis: genetic and biochemical analysis of eight cases.

The molecular basis of the deficiency of alpha-L-fucosidase has been investigated in eight patients who had been diagnosed clinically and enzymatically as suffering from the autosomal recessive lysosomal storage disease fucosidosis. None of the patients had a deletion or gross alteration of the alph...

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Main Authors: Cragg, H, Williamson, M, Young, E, O'Brien, J, Alhadeff, J, Fang-Kircher, S, Paschke, E, Winchester, B
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050861/
https://ncbi.nlm.nih.gov/pubmed/9039984
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