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Pediatric Research|January 28, 2006
Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type IChris Mühlhausen, Nicola Ott, Fariba Chalajour, et al.The Journal of Biological Chemistry|May 22, 2010
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophagesSandra Pohl, Stephan Tiede, Katrin Marschner, et al.Magnetic Resonance in Medicine|October 31, 2003
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiencyW Klaas Jan Renema, Andreas Schmidt, Jack J A van Asten, et al.Human Mutation|May 18, 2004
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III ANicole Muschol, Stephan Storch, Diana Ballhausen, et al.The Journal of Biological Chemistry|June 5, 2024
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage diseaseMaya M Polovitskaya, Tanushka Rana, Kurt Ullrich, et al.European Journal of Pediatrics|October 10, 2002
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1Gepke Visser, Jan Peter Rake, Philippe Labrune, et al.Neurobiology of Disease|August 30, 2008
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuriaUdo Schumacher, Zoltan Lukacs, Christian Kaltschmidt, et al.American Journal of Obstetrics and Gynecology|February 5, 2008
Pregnancies in glycogen storage disease type IaDaniëlle H J Martens, Jan Peter Rake, Martin Schwarz, et al.Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|November 1, 2007
Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuriaChristian Landvogt, Eugen Mengel, Peter Bartenstein, et al.Paediatric Anaesthesia|December 14, 2019
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort studyThorsten Dohrmann, Nicole M Muschol, Susanne Sehner, et al.Pageof 5