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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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Publicado no: | Case Rep Gastroenterol |
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Main Authors: | , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
S. Karger AG
2014
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Assuntos: | |
Acesso em linha: | 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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