The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.
Makaleler > Tam Makale · 2020
Yazarlar: ERHAN Canbay, M Vural, Sema KALKAN UÇAR, Ebru SEZER, H Karasoy, Ayşe Nur YÜCEYAR, M Çoker, Eser YILDIRIM SÖZMEN
Journal of pediatric endocrinology & metabolism : JPEM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2020, cilt 33, ss 391-395
Özet
Background: Recently, urinary excretion of the tetrasaccharide 6-alpha-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantileand late-onset Pompe patients in the Turkish population.