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Showing articles 0 to 13 of 13 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 Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2 NEJM 370:911-920, Zhou, Q.,et al, 2014 Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia Adams & Victors Principles of Neurology, Chp 37, pg 952, Ropper, A.H.,et al, 2014 Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study Lancet 369:37-42,5, Wilcken,B.,et al, 2007 Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency Neurol 60:1413-1417, Pearl,P.L.,et al, 2003 Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 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 13 of 13