Homocystinuria: Studies on cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities in skin fibroblasts

Cystathionine β‐synthase,S‐adenosylmethionine synthetase and cystathionase activities were assayed in skin fibroblast cultures from five pyridoxine responsive and five pyridoxine non‐responsive homocystinurics, six obligate heterozygotes for homocystinuria and ten normal control subjects. The specif...

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Veröffentlicht in:	Journal of inherited metabolic disease 1981-12, Vol.4 (1), p.3-6
Hauptverfasser:	Bittles, A. H., Carson, N. A. J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Cells, Cultured Cystathionine beta-Synthase - metabolism Cystathionine gamma-Lyase - metabolism Fibroblasts - drug effects Fibroblasts - enzymology Genetic Carrier Screening Homocystinuria - enzymology Homozygote Humans Hydro-Lyases - metabolism Lyases - metabolism Methionine Adenosyltransferase - metabolism Pyridoxine - pharmacology Reference Values Skin - enzymology Transferases - metabolism
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