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Showing articles 0 to 8 of 8 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 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015 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 Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy NEJM 338:1119-1126, Krivit,W.,et al, 1998 Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature Medicine 74:131-135, Felice,K.J.,et al, 1995 The Cherry-red Spot-Myoclonus Syndrome Ann Neurol 3:234, Rapin,I.,et al, 1978 Showing articles 0 to 8 of 8