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Showing articles 0 to 14 of 14 Filter Applied: lysosomal storage disease (Click to remove) Genetic Diagnosis of Gaucher's Disease Lancet 339:889-892, Mistry,P.K.,et al, 1992 Anderson-Fabray Disease, A Commonly Missed Diagnosis BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988 Niemann-Pick Type C Disease www.UpToDate.com, Nov, Schiffmann, R., 2026 AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025 A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease Neurol 103:e210070, Lara,C.,et al, 2024 A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance Neurol 99:997-1003, Chaity,D.K.,et al, 2022 Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017 Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment JIEMS 4:1-5, Politeri,J.M.,et al, 2016 Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis) NEJM 370:1830-1841, Case 14-2014, 2014 "Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients Neurol 77:522-523, Kwon, J.M.et al, 2011 Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation JNNP 69: 5-12, Gray,R.G.F. et al, 2000 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis NEJM 392:1461-1464, Gahl,W.A.,et al, 1988 Showing articles 0 to 14 of 14