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European Journal of Pediatrics|October 10, 2002
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)Jan Peter Rake, Gepke Visser, Philippe Labrune, et al.European Journal of Pediatrics|October 10, 2002
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)Jan Peter Rake, Gepke Visser, Philippe Labrune, et al.Orphanet Journal of Rare Diseases|July 10, 2016
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantationMona Schmidt, Sandra Breyer, Ulrike Löbel, et al.European Journal of Endocrinology|October 13, 2004
Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblastsElke Hammer, Kerstin Kutsche, Friedrich Haag, et al.Glycobiology|January 23, 2004
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activityKostas Tsiakas, Robert Steinfeld, Stephan Storch, et al.Biochimica Et Biophysica Acta|April 30, 2013
Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1Bastian Thies, Catherine Meyer-Schwesinger, Jessica Lamp, et al.Orphanet Journal of Rare Diseases|January 7, 2021
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwideAtul Mehta, Uma Ramaswami, Joseph Muenzer, et al.Journal of Inherited Metabolic Disease|April 2, 2014
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatmentChris Mühlhausen, Gajja S Salomons, Zoltan Lukacs, et al.European Journal of Pediatrics|October 10, 2002
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1Gepke Visser, Jan Peter Rake, Philippe Labrune, et al.Orphanet Journal of Rare Diseases|May 4, 2019
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)Nicole M Muschol, Daniel Pape, Kai Kossow, et al.Pageof 5