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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Ann Transl Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: AME Publishing Company 2017
विषय:
Newborn Screening, Inborn Errors of Metabolism
ऑनलाइन पहुंच: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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