Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases

There are two genetically determined biotin-dependent disorders. The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. HCS catalyzes the reaction in which active holocarboxylases are synthesized from inactive apocarboxylases. Biotin is required for th...

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Bibliografske podrobnosti
Main Authors: T Coşkun, A Tokatli, I Ozalp
Format: Article
Jezik:English
Izdano: Hacettepe University Institute of Child Health 1994-10-01
Serija:The Turkish Journal of Pediatrics
Online dostop:https://turkjpediatr.org/article/view/3638