Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
OBJECTIVE: The aim of this study was to explore the genetic features of a family with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) which may provide the basis for the diagnosis and genetic counseling
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 51(2013), 10 vom: 09. Okt., Seite 783-6 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2013
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Case Reports Journal Article Acyl Coenzyme A 2-methylacetoacetyl-coenzyme A 6712-01-2 3-Hydroxyacyl CoA Dehydrogenases EC 1.1.1.- HSD17B10 protein, human EC 1.1.1.35 Acetyl-CoA C-Acetyltransferase |