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Showing articles 0 to 8 of 8 Filter Applied: enzyme,defect (Click to remove) Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency Neurol 60:1413-1417, Pearl,P.L.,et al, 2003 Psychiatric Disturbances in Metachromatic Leukodystrophy Arch Neurol 49:401-406, Hyde,T.M.,et al, 1992 Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome NEJM 348:33-40, Hayflick,S.J.,et al, 2003 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Hallervorden-Spatz Disease:Cysteine Accumulation & Cysteine Dioxygenase Deficiency in the Globus Palladus Ann Neurol 18:482-489, Perry,T.L.,et al, 1985 Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981 Showing articles 0 to 8 of 8