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Showing articles 0 to 8 of 8 Filter Applied: lysosomal storage disease (Click to remove) A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease Neurol 103:e210070, Lara,C.,et al, 2024 Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025 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 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 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 8 of 8