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Showing articles 0 to 9 of 9 Filter Applied: enzyme,defect (Click to remove) Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities Ann Neurol 39:343-351, Rahman,S.,et al, 1996 Cytochrome c Oxidase Deficiency in Leigh Syndrome Ann Neurol 22:498-506, DiMauro,S.,et al, 1987 Subacute Necrotizing Encephalopathy in Late Adolescence Arch Neurol 18:478, Hardman,J.M.,et al, 1968 Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014 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 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 Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis Ann Neurol 18:614-617, Wolf,B.,et al, 1985 Neurologic Outcome in Children with Inborn Errors of Urea Synthesis NEJM 310:1500-1505, Msall,M.,et al, 1984 Showing articles 0 to 9 of 9