Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

• Główni autorzy: Eungu Kang (Autor), Yoon-Myung Kim (Autor), Minji Kang (Autor), Sun-Hee Heo (Autor), Gu-Hwan Kim (Autor), In-Hee Choi (Autor), Jin-Ho Choi (Autor), Han-Wook Yoo (Autor), Beom Hee Lee (Autor)
• Format: Książka
• Wydane: BMC, 2018-03-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible. This study describes the clinical, bioc...