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    Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review

    Autosomal recessive glutaric acidaemia type I (GA-I) is a rare hereditary metabolic disease characterized by increased organic acids and neurologic symptoms. Although numerous variants in the GCDH gene have be...

    Zihan Guo, Anyue Gong, Shiguo Liu, Hui Liang in Molecular Genetics and Genomics (2023)