Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

BACKGROUND: Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (NBS) are scarce in the Chinese population. This study aimed to assess the acy...

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Detalles Bibliográficos
Autores principales: Lin, Yiming, Wang, Wenjun, Lin, Chunmei, Zheng, Zhenzhu, Fu, Qingliu, Peng, Weilin, Chen, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8335863/
https://www.ncbi.nlm.nih.gov/pubmed/34344405
http://dx.doi.org/10.1186/s13023-021-01964-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8335863/
https://www.ncbi.nlm.nih.gov/pubmed/34344405
http://dx.doi.org/10.1186/s13023-021-01964-5

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