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  1. Article

    Open Access

    Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis

    Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and region...

    **fu Zhou, Guilin Li, Yinglin Zeng, **aolong Qiu… in Orphanet Journal of Rare Diseases (2024)

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  2. Article

    Open Access

    Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

    Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). The estimated prevalence of GA1 a...

    **fu Zhou, Guilin Li, Lin Deng, Peiran Zhao… in Orphanet Journal of Rare Diseases (2023)

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  3. Article

    Open Access

    Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China

    Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inherited disorder of amino acid metabolism in China. Its complex phenotype includes many variants and genotypes among different populations.

    **fu Zhou, Yinglin Zeng, **aolong Qiu, Qingying Lin… in Molecular Biology Reports (2022)

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