Article

Clinical, biochemical and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

2020-03-10

Abstract excerpt

<title>Abstract</title> <p>Background: Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in the defect of several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case presentation : In this study, we have reported a Chinese Han pedigree with HLCS deficiency diagnosed using next-generation sequencing and validated wit...

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Literature Corpus work: 1a27a445-c38b-5e11-b36a-a6664121d244
DOI: 10.21203/rs.3.rs-16317/v1

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