Konu "L-2-Hydroxyglutaric Aciduria" için Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed listeleme
Toplam kayıt 1, listelenen: 1-1
-
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: Two different presentations
(Springer, 2020)Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar ...