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Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. The clinical presentation in female manifesting carriers varies both in onset and severity. We report on a female with insulin dependent diabetes mellitus and recurrent episodes of hyperammonemia. Since OTC activity me...

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Detalhes bibliográficos
Main Authors: Grünert, Sarah C, Villavicencio-Lorini, Pablo, Wermuth, Bendicht, Lehnert, Willy, Sass, Jörn Oliver, Schwab, K Otfried
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3706312/
https://ncbi.nlm.nih.gov/pubmed/23829977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2251-6581-12-37
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