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Showing articles 0 to 8 of 8 Filter Applied: enzyme,defect (Click to remove) Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy NEJM 338:1119-1126, Krivit,W.,et al, 1998 Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 A 54-Year-Old Woman with Progressive Headache and Neurologic Decline Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006 Neurological Presentation of Fabry's Disease in a 52 Year Old Man JNNP 73:340-342, Mohanraj,R.,et al, 2002 Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification NEJM 313:139-181, Sly,W.S.,et al, 1985 Showing articles 0 to 8 of 8