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Molecular Genetics and Metabolism Reports|October 29, 2021
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cellsRebecca J Lehmann, Lachlan A Jolly, Brett V Johnson, et al.Molecular Genetics and Metabolism|April 8, 2006
Newborn screening for lysosomal storage disordersPeter J Meikle, Dallas J Grasby, Caroline J Dean, et al.The Journal of Biological Chemistry|July 7, 2009
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher diseaseGustavo H B Maegawa, Michael B Tropak, Justin D Buttner, et al.Angewandte Chemie (International Ed. in English)|July 21, 2022
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal ModelsAndrés G Santana, Kyle Robinson, Chelsea Vickers, et al.The Journal of Biological Chemistry|July 23, 2013
Heparan sulfate proteoglycans containing a glypican 5 core and 2-O-sulfo-iduronic acid function as Sonic Hedgehog co-receptors to promote proliferationRochelle M Witt, Marie-Lyn Hecht, Maria F Pazyra-Murphy, et al.Journal of the American Heart Association|February 6, 2014
Risk of death in heart disease is associated with elevated urinary globotriaosylceramideRaphael Schiffmann, Sabrina Forni, Caren Swift, et al.Communications Biology|May 25, 2023
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiencyMurtaza S Nagree, Jitka Rybova, Annie Kleynerman, et al.Molecular Genetics and Metabolism|April 5, 2026
Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challengesJoseph Muenzer, Mark Dant, Patricia I Dickson, et al.Kidney International Reports|February 24, 2025
Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell PathologyAndrea F Wise, Igaa Ari Krisnadevi, Shoni Bruell, et al.Plos One|March 9, 2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patientsBrandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, et al.Pageof 11