Article

Phenotypic and genotypic characteristics of adult-onset glutaric aciduria type 1: report of two cases and a literature review

2023-11-30

Abstract excerpt

Glutaric aciduria type 1 (GA-1) is an autosomal recessive inherited disorder caused by GCDH variations. GA-1 is a rare disease that typically manifests in infancy and early childhood, with adult-onset cases being even rarer. Currently, data on the clinical and genetic characteristics of adult-onset GA-1 remains limited. We hereby reported two new cases of adult-onset GA-1 and systematically summarized reported stu...

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Literature Corpus work: 5654d934-352e-5da9-8c90-ef78bb11dca9
DOI: 10.21203/rs.3.rs-3664197/v1

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