Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

The variants of electron transfer flavoprotein (ETFA, ETFB) and ETF dehydrogenase (ETFDH) are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified 13 patients harboring six variants of two genes associated with GA-II. Out of the six variants, four were missense, and t...

Descripción completa

Detalles Bibliográficos
Autores principales: Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466204/
https://www.ncbi.nlm.nih.gov/pubmed/34573316
http://dx.doi.org/10.3390/genes12091334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466204/
https://www.ncbi.nlm.nih.gov/pubmed/34573316
http://dx.doi.org/10.3390/genes12091334

Ejemplares similares