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Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency
BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare urea cycle disorder. The aim of this study was to present the clinical findings, management, biochemical data, molecular genetic analysis, and short‐term prognosis of five children with CPS1D. METHODS: The information of five...
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| Publicado en: | J Clin Lab Anal |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7171324/ https://ncbi.nlm.nih.gov/pubmed/31749211 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23124 |
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