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

BACKGROUND: 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 and the mutational spectrum of the GCDH gene vary widely according to race and r...

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Detalles Bibliográficos
Autores principales:	Zhou, Jinfu, Li, Guilin, Deng, Lin, Zhao, Peiran, Zeng, Yinglin, Qiu, Xiaolong, Luo, Jinying, Xu, Liangpu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373284/ https://www.ncbi.nlm.nih.gov/pubmed/37496092 http://dx.doi.org/10.1186/s13023-023-02833-z

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