A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
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Infantile Epileptic Spasms Syndrome (West Syndrome)
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Cognitive Delay in a 7-year-old Girl
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
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