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Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency

Mitochondrial acetoacetyl‐CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and isoleucine metabolism. It typically manifests with episodic ketoacidosis. The presence of isoleucine‐derived metabolites is the key marker for biochemical diagnosis. To date,...

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Detalles Bibliográficos
Autores principales:	Abdelkreem, Elsayed, Harijan, Rajesh K., Yamaguchi, Seiji, Wierenga, Rikkert K., Fukao, Toshiyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Mutation Update
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790690/ https://www.ncbi.nlm.nih.gov/pubmed/31268215 http://dx.doi.org/10.1002/humu.23831

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