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Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as genetic (private mutations and lyonization) and exte...
Autores principales: | Kido, Jun, Kawasaki, Tatsuya, Mitsubuchi, Hiroshi, Kamohara, Hidenobu, Ohba, Takashi, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5332424/ https://www.ncbi.nlm.nih.gov/pubmed/28293384 http://dx.doi.org/10.4254/wjh.v9.i6.343 |
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