The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.

Articles > Article · 2020

Authors: 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, Journal Indexed in SCI Expanded, International, 2020, vol 33, pp 391-395

DOI: 10.1515/jpem-2019-0393

Summary

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.

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