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ATP binding Cassette Transporter Defects and Their Roles in Hepatic Diseases Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics Genetics in Medicine Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report ScienceDirect

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