Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey

BACKGROUND: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders. They are both classified as, and it is suggested that th...

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Detalles Bibliográficos
Autores principales: Bozaci, Ayse Ergül, Er, Esra, Ünal, Aysel Tekmenuray, Taş, İbrahim, Ayaz, Ercan, Ozbek, Mehmet Nuri, Durmaz, Asude, Aykut, Ayçe, Kose, Melis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238566/
https://www.ncbi.nlm.nih.gov/pubmed/37275239
http://dx.doi.org/10.1016/j.ymgmr.2023.100979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238566/
https://www.ncbi.nlm.nih.gov/pubmed/37275239
http://dx.doi.org/10.1016/j.ymgmr.2023.100979

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