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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Prif Awduron:	Ayse Ergül Bozaci, Esra Er, Aysel Tekmenuray Ünal, İbrahim Taş, Ercan Ayaz, Mehmet Nuri Ozbek, Asude Durmaz, Ayçe Aykut, Melis Kose
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Elsevier 2023-09-01
Cyfres:	Molecular Genetics and Metabolism Reports
Pynciau:	Glutaric aciduria type 1 L-2-hydroxy glutaric aciduria Flavin adenine dinucleotide Vitamin B2 Cerebral organic aciduria
Mynediad Ar-lein:	http://www.sciencedirect.com/science/article/pii/S2214426923000253
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!