Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

• 主要な著者: Ebru Canda (著者), Havva Yazıcı (著者), Esra Er (著者), Cenk Eraslan (著者), Yasemin Atik Altınok (著者), Hepsen Mine Serin (著者), Sara Habif (著者), Gül Serdaroğlu (著者), Sema Kalkan Uçar (著者), Hüseyin Onay (著者), Ferda Özkınay (著者), Mahmut Çoker (著者)
• フォーマット: 図書
• 出版事項: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-yea...