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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...
Autores principales: | Bozaci, Ayse Ergül, Er, Esra, Ünal, Aysel Tekmenuray, Taş, İbrahim, Ayaz, Ercan, Ozbek, Mehmet Nuri, Durmaz, Asude, Aykut, Ayçe, Kose, Melis |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
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 |
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