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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Chuang, D T, Ku, L S, Kerr, D S, Cox, R P
Formato: Artigo
Lenguaje:Inglês
Publicado: 1982
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685326/
https://ncbi.nlm.nih.gov/pubmed/7081220
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares