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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2019
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Materias: | |
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 |