Enter your terms above and click the 'Search' button.

Showing articles 0 to 9 of 9 Filter Applied: enzyme,defect (Click to remove) Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 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 Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease Neurol 78: e126, Shah, S.,et al, 2012 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Recurrent Acroparaesthesia During Febrile Infections Lancet 363:1698, Bodamer,O.A.,et al, 2004 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 Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I) Ann Neurol 7:450-456, Steinman,L.,et al, 1980 Neurological Manifestations of Fabry Disease in Female Carriers Ann Neurol 4:537-540, Bird,T.D.,et al, 1978 Showing articles 0 to 9 of 9