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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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Detalles Bibliográficos
Autores principales:	Fan, Lijuan, Zhao, Jing, Jiang, Li, Xie, Lingling, Ma, Jiannan, Li, Xiujuan, Cheng, Min
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171324/ https://www.ncbi.nlm.nih.gov/pubmed/31749211 http://dx.doi.org/10.1002/jcla.23124

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