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Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency
L. Mrázová, T. Fukao, K. Halovd
Journal of inherited metabolic disease.
2005 ;
Roč. 28 (č. 2) :
s. 235-236.
Language English Country Netherlands
Document type Case Reports
Persistent link
https://www.medvik.cz/link/bmc07000320
Online
NLK
ProQuest Central
from 1999-02-01 to 2018-11-30
Health & Medicine (ProQuest)
from 1999-02-01 to 2018-11-30
- MeSH
- Acetyl-CoA C-Acyltransferase genetics deficiency MeSH
- Genotype MeSH
- Infant MeSH
- Humans MeSH
- Mutation, Missense MeSH
- Mitochondria MeSH
- Child, Preschool MeSH
- Metabolism, Inborn Errors genetics metabolism MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Publication type
- Case Reports MeSH
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