Article

Clinical and Molecular Characteristics of 69 Chinese Patients with Ornithine Transcarbamylase Deficiency

2020-05-20

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>This study aimed to<bold> </bold>describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of <italic>OTC</italic> gene and their potential correlation with phenotype.<bold>Methods:</bold> Sixty-nine patients with OTCD were enrolled between 2004 and 2019. Clinica...

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Literature Corpus work: fdbf7470-2785-5041-ae30-b37e5ff5cde4
DOI: 10.21203/rs.3.rs-29571/v1

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