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Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.The Journal of Biological Chemistry|April 24, 2003
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanismsEmyr Lloyd-Evans, Dori Pelled, Christian Riebeling, et al.Journal of Lipid Research|July 13, 2011
Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry miceBrandon Durant, Sabrina Forni, Lawrence Sweetman, et al.Movement Disorders Clinical Practice|March 7, 2019
Dystonia in RNA Polymerase III-Related LeukodystrophyGhalia Al Yazidi, Luan T Tran, Kether Guerrero, et al.Human Mutation|August 9, 2005
Gaucher mutation N188S is associated with myoclonic epilepsyLaurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2020
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry diseaseDaniel G Bichet, Johannes M Aerts, Christiane Auray-Blais, et al.Kidney International|December 22, 2016
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies ConferenceRaphael Schiffmann, Derralynn A Hughes, Gabor E Linthorst, et al.Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders|January 9, 2019
Clinical Trials on Diabetic Nephropathy: A Cross-Sectional AnalysisSergio Modafferi, Markus Ries, Vittorio Calabrese, et al.BMJ Open|November 21, 2018
Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and childrenChristian Patry, Simon Kranig, Neysan Rafat, et al.Human Mutation|November 4, 2004
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IVEhud Goldin, Stefanie Stahl, Adele M Cooney, et al.Pageof 27