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Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency

β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of β-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with βUP deficiency. We reported 7 C...

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Detalles Bibliográficos
Autores principales:	Fang, Yulian, Cai, Chunquan, Wang, Chao, Sun, Bei, Zhang, Xinjie, Fan, Wenxuan, Hu, Wenchao, Meng, Yingtao, Lin, Shuxiang, Zhang, Chunhua, Zhang, Yuqin, Shu, Jianbo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344145/ https://www.ncbi.nlm.nih.gov/pubmed/30608453 http://dx.doi.org/10.1097/MD.0000000000014021

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