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Showing articles 0 to 7 of 7 Filter Applied: lysosomal storage disease (Click to remove) Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy NEJM 391:1256-1258, Laugwitz,L.,et al, 2024 A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease Neurol 103:e210070, Lara,C.,et al, 2024 "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 Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews NEJM 323:6-12, Triggs-Raine,B.L.,et al, 1990 Amaurotic Family Idiocy Am J Dis Child 142:53-56, Abt,I.A., 1988 Screening for Inherited Metabolic Diseases in Adults with Neurological Disease Lancet 1:1101, Wierzbicki,A.S.,et al, 1988 Showing articles 0 to 7 of 7