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

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...

Полное описание

Библиографические подробности

Главные авторы:	Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
Серии:	Journal of Pediatric Research
Предметы:	Glutaric acid glutaryl carnitine dystonia
Online-ссылка:	http://jpedres.org/archives/archive-detail/article-preview/glutaric-aciduria-type--diagnosis-case-with-normal/18791
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!