Deficiency of Biotinyl-AMP Synthetase Activity in Fibroblasts of Patients with Holocarboxylase Synthetase Deficiency

A simple, rapid assay was developed to diagnose holocarboxylase synthetase deficiency. Holocarboxylase synthetase first catalyzes the formation of biotinyl-AMP from biotin and ATP, an activity designated as biotinyl-AMP synthetase. In the second step of the reaction, biotin is transferred from bioti...

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Veröffentlicht in:	Molecular genetics and metabolism 1998-08, Vol.64 (4), p.250-255
Hauptverfasser:	Morita, Jun, Thuy, Le Phuc, Sweetman, Lawrence
Format:	Artikel
Sprache:	eng
Schlagworte:	biotin Carbon-Nitrogen Ligases - deficiency Carbon-Nitrogen Ligases - metabolism Female Fibroblasts - enzymology holocarboxylase synthetase deficiency Humans Hydrogen-Ion Concentration Infant Infant, Newborn Kinetics Male Metabolism, Inborn Errors - enzymology multiple carboxylase deficiency
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