Browsing Research Articles (Paediatrics and Child Health) by Subject "Metabolic disorder"

Browsing Research Articles (Paediatrics and Child Health) by Subject "Metabolic disorder"

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  • 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients 
    Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; Van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; De Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; Van der Westhuizen, Francois Hendrikus; Thorburn, David; Smeitink, Jan A.M.; Morava, Eva; Wevers, Ron A. (Springer, 2013-11)
    Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in AUH), it derives from leucine degradation. ...
  • A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency 
    Van der Westhuizen, Francois H.; Smuts, Izelle; Honey, Engela M.; Louw, Roan; Schoonen, Maryke; Jonck, Lindi-Maryn; Dercksen, Marli (Elsevier, 2018-01)
    Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including ...