A carregar...
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
BACKGROUND: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. METHODS: We performed a syste...
Na minha lista:
| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7187484/ https://ncbi.nlm.nih.gov/pubmed/32345314 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01357-0 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|