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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...
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| Publicado no: | Medicine (Baltimore) |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6831407/ https://ncbi.nlm.nih.gov/pubmed/31415401 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000016827 |
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