Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
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DOI: 10.1186/s13023-020-01606-2
Abstract: Background This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype. Methods… read more here.
Keywords: patients ornithine; early onset; ornithine transcarbamylase; chinese patients ... See more keywords