Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

PURPOSE: To characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients. METHODS: We analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland China. RESULTS: 20 patients were diagnosed...

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Detalles Bibliográficos
Autores principales: E., Huishu, Liang, Lili, Zhang, Huiwen, Qiu, Wenjuan, Ye, Jun, Xu, Feng, Gong, Zhuwen, Gu, Xuefan, Han, Lianshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293753/
https://www.ncbi.nlm.nih.gov/pubmed/34306040
http://dx.doi.org/10.3389/fgene.2021.702374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293753/
https://www.ncbi.nlm.nih.gov/pubmed/34306040
http://dx.doi.org/10.3389/fgene.2021.702374

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