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Four novel variants identified in genes causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families

2023-10-06

Abstract excerpt

<h4>Background: </h4> This article reports and discusses the biochemical and genetic characteristics of four very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) patients, clarifying their pathogenic genetic factors and evaluating the application value of genetic diagnosis in the early diagnosis of VLCADD. <h4>Methods: </h4> Patients underwent blood tandem mass spectrometry (MS/MS), urine gas chromatography...

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Literature Corpus work
4090a609-bd45-5580-8ebe-fde85a93ee7a
DOI
10.21203/rs.3.rs-3294275/v1
Open publication

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Four novel variants identified in genes causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese familiesDOI 10.21203/rs.3.rs-3294275/v1
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