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Showing articles 0 to 9 of 9 Filter Applied: enzyme,defect (Click to remove) A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Dopamine, Dystonia, and the Deficient Co-Factor Lancet 345:1130, Williams,A.C., 1995 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 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 Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings Neurol 39:741-742, Friedman,J.H.,et al, 1989 Adult Type Neuronal Storage Disease with Neuraminidase Deficiency Ann Neurol 6:232-244, Miyatake,T.,et al, 1979 Adult-onset GM2 Gangliosidosis Neurol 28:1117-1123, O'Neill,B.,et al, 1978 Showing articles 0 to 9 of 9