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Acylglycines play a crucial regulatory and detoxification role in the accumulation of the corresponding acyl CoA esters and are… Expand We describe late-onset propionic acidemia in a 12-year-old boy who presented with vomiting, cough, and fever, and manifested a… Expand A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the… Expand Propionic acidaemia (McKusick 232000) due to propionyl-CoA carboxylase (EC 184.108.40.206) deÐciency is a recessively inherited defect… Expand We hypothesized that gut motility likely plays a critical role in the metabolic stability in propionic acidemia (PA). Therefore… Expand A gas chromatography tandem mass spectrometry method using an ion trap GC/MS system was developed to quickly screen urine samples… Expand Screening urine for inherited and acquired organic acidurias in newborns has the potential of preventing severe disease, mental… Expand ABSTRACT: Odd-chain fatty acids are recognized precursors of propionate in man, but their clinical significance in disorders of… Expand Proton nuclear magnetic resonance spectroscopy has been used to monitor changes in urinary metabolites in a patient with… Expand 1. The urinary excretion of acylglycines has been studied in four patients with propionic acidaemia. 2. Propionylglycine was… Expand