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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2019
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| Materias: | |
| 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 |