AB076. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

BACKGROUND: Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder of ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy. More than 30 patients with this disorder have been reported and to our knowledge, t...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Naiki, Yasuhiro, Kubota, Mitsuru, Sekine, Yuji, Itoh, Masatsune, Nakama, Mina, Ohnishi, Hidenori, Fujiki, Ryoji, Ohara, Osamu, Fukao, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2017
Assuntos:
Newborn Screening, Inborn Errors of Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641759/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s076
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