Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

INTRODUCTION: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder...

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Detalles Bibliográficos
Autores principales: Rush, Eric T, Hartmann, Julianne E, Skrabal, Jill C, Rizzo, William B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857352/
https://www.ncbi.nlm.nih.gov/pubmed/27489649
http://dx.doi.org/10.1177/2050313X14546348

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