Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzy...

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Hlavní autoři: Brown, B I, Brown, D H
Médium: Artigo
Jazyk:Inglês
Vydáno: 1989
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715438/
https://ncbi.nlm.nih.gov/pubmed/2521770
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