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Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report
RATIONALE: The carbamoyl phosphate synthetase I deficiency (CPS1D) was rare and hard to diagnose due to its atypical symptoms. Brain magnetic resonance imaging (MRI) was typically unavailable in other reports because most patients died before diagnosis was confirmed. Furthermore, it was found a new...
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| Publicado en: | Medicine (Baltimore) |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wolters Kluwer Health
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5500080/ https://ncbi.nlm.nih.gov/pubmed/28658158 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000007365 |
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