Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype

Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine t...

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Detalles Bibliográficos
Autores principales: Sánchez, Ana Isabel, Rincón, Alejandra, García, Mary, Suárez-Obando, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316440/
https://www.ncbi.nlm.nih.gov/pubmed/28261508
http://dx.doi.org/10.1155/2017/1048717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316440/
https://www.ncbi.nlm.nih.gov/pubmed/28261508
http://dx.doi.org/10.1155/2017/1048717

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