نتایج جستجو برای: inborn errors of metabolism

تعداد نتایج: 21191850  

Journal: :Archives of Disease in Childhood 1989

Journal: :Clinical chemistry 2004
Udo F H Engelke Maria L F Liebrand-van Sambeek Jan G N de Jong Jules G Leroy Eva Morava Jan A M Smeitink Ron A Wevers

BACKGROUND There is no comprehensive analytical technique to analyze N-acetylated metabolites in urine. Many of these compounds are involved in inborn errors of metabolism. In the present study, we examined the potential of proton nuclear magnetic resonance ((1)H-NMR) spectroscopy as a tool to identify and quantify N-acetylated metabolites in urine of patients with various inborn errors of meta...

Journal: :Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 2016

Journal: :Proceedings of the Nutrition Society 1976

Journal: :Journal of Inborn Errors of Metabolism and Screening 2018

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