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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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Orphanet J Rare Dis |
|---|---|
| Prif Awduron: | , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2020
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| Pynciau: | |
| Mynediad Ar-lein: | 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 |
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