Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Abdelkreem, Elsayed, Akella, Radha Rama Devi, Dave, Usha, Sane, Sudhir, Otsuka, Hiroki, Sasai, Hideo, Aoyama, Yuka, Nakama, Mina, Ohnishi, Hidenori, Mahmoud, Shaimaa, Abd El Aal, Mohamed, Fukao, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585108/
https://ncbi.nlm.nih.gov/pubmed/27928777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_26
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