Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China
Abstract 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 ra...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
BMC
2023-07-01
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| سلاسل: | Orphanet Journal of Rare Diseases |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.1186/s13023-023-02833-z |
| الوسوم: |
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