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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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 |