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

Showing articles 0 to 10 of 10 Filter Applied: enzyme,defect (Click to remove) Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome NEJM 348:33-40, Hayflick,S.J.,et al, 2003 Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities Ann Neurol 39:343-351, Rahman,S.,et al, 1996 Dopamine, Dystonia, and the Deficient Co-Factor Lancet 345:1130, Williams,A.C., 1995 Brain Imaging in Late-Onset CM2 Gangliosidosis Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993 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 Neurologic Outcome in Children with Inborn Errors of Urea Synthesis NEJM 310:1500-1505, Msall,M.,et al, 1984 Showing articles 0 to 10 of 10