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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Detalles Bibliográficos
Autores principales: Nakajima, Hitoshi, Sasaki, Yosuke, Maeda, Tadashi, Takeda, Masako, Hara, Noriko, Nakanishi, Kazushige, Urita, Yoshihisa, Hattori, Risa, Miura, Ken, Taniguchi, Tomoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: November, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337171/
https://www.ncbi.nlm.nih.gov/pubmed/25759629
http://dx.doi.org/10.1159/000369131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337171/
https://www.ncbi.nlm.nih.gov/pubmed/25759629
http://dx.doi.org/10.1159/000369131

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