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Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

To detect heterozygotes for maple-syrup-urine disease (MSUD), activities of branched-chain-alpha-ketoacid (BCKA) dehydrogenase and its components in skin fibroblasts of two obligatory heterozygotes and amnion cells of a fetus at risk were measured. Intact heterozygous cells were found to decarboxyla...

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Hlavní autoři: Chuang, D T, Ku, L S, Kerr, D S, Cox, R P
Médium: Artigo
Jazyk:Inglês
Vydáno: 1982
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685326/
https://ncbi.nlm.nih.gov/pubmed/7081220
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