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Showing articles 0 to 10 of 10 Filter Applied: enzyme,defect (Click to remove) 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 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006 Recurrent Acroparaesthesia During Febrile Infections Lancet 363:1698, Bodamer,O.A.,et al, 2004 Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I) Ann Neurol 7:450-456, Steinman,L.,et al, 1980 Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia Neurol 29:510-513, Rutgers,M.J.,et al, 1979 Neurological Manifestations of Fabry Disease in Female Carriers Ann Neurol 4:537-540, Bird,T.D.,et al, 1978 Showing articles 0 to 10 of 10