Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency: Two case reports

INTRODUCTION: Ornithine transcarbamylase deficiency (OTCD) is a common metabolic disease of urea circulation disorder. We reported the clinical, brain imaging and genetic characteristics of 2 cases with OTCD. The patients’ clinical features, novel gene mutations, cranial MR specific imaging changes...

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Detalles Bibliográficos
Autores principales: Yu, Dan, Lu, Guoyan, Mowshica, Rajah, Cheng, Yan, Zhao, Fumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
6800
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831407/
https://www.ncbi.nlm.nih.gov/pubmed/31415401
http://dx.doi.org/10.1097/MD.0000000000016827

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831407/
https://www.ncbi.nlm.nih.gov/pubmed/31415401
http://dx.doi.org/10.1097/MD.0000000000016827

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