Konu "L-2-Hydroxyglutaric Aciduria" için Scopus İndeksli Yayınlar Koleksiyonu listeleme
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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 ...