Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report
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DOI: 10.1186/s12881-020-01080-4
Abstract: Background 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 lesions. Case presentation In this paper, we… read more here.
Keywords: hlcs; chinese han; holocarboxylase synthetase; gene ... See more keywords
Holocarboxylase synthetase knockout is embryonic lethal in mice
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DOI: 10.1371/journal.pone.0265539
Abstract: Holocarboxylase synthetase (HLCS) catalyzes the biotinylation of five distinct biotin-dependent carboxylases and perhaps chromatin proteins. HLCS deficiency causes multiple carboxylase deficiency which results in fatal consequences unless patients are diagnosed early and treated with pharmacological… read more here.
Keywords: knockout embryonic; knockout; embryonic lethal; holocarboxylase synthetase ... See more keywords