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

Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin ...

Source: BMC Medical Genetics - July 29, 2020 Category: Genetics & Stem Cells Authors: Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu and Qingliu Fu Tags: Case report Source Type: research