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Showing articles 0 to 8 of 8 Filter Applied: enzyme,defect (Click to remove) Adult-onset GM2 Gangliosidosis Neurol 28:1117-1123, O'Neill,B.,et al, 1978 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005 Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998 Dopamine, Dystonia, and the Deficient Co-Factor Lancet 345:1130, Williams,A.C., 1995 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 Neurological Manifestations of Fabry Disease in Female Carriers Ann Neurol 4:537-540, Bird,T.D.,et al, 1978 Showing articles 0 to 8 of 8