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Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study
Journal of Cellular and Molecular Medicine
Urea cycle disorders (UCDs) are a group of rare metabolic conditions characterized by hyperammonemia and a broad spectrum of phenotypic severity. They are caused by the congenital deficiency in the eight biomolecules involved in urea cycle. In the present study, five cases of UCD were recruited and submitted to a series of clinical, biochemical, and genetic analysis with a combination of high throughput techniques. Moreover, in silico analysis was conducted on the identified missense geneticdoi:10.1111/jcmm.16379 pmid:33611823 fatcat:rzzccvjejbe3pggal5f4gqurfa