Antepartum Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-yea...

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Vydáno v:Case Rep Gastroenterol
Hlavní autoři: Nakajima, Hitoshi, Sasaki, Yosuke, Maeda, Tadashi, Takeda, Masako, Hara, Noriko, Nakanishi, Kazushige, Urita, Yoshihisa, Hattori, Risa, Miura, Ken, Taniguchi, Tomoko
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2014
Témata:
Published online: November, 2014
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4337171/
https://ncbi.nlm.nih.gov/pubmed/25759629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000369131
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