A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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Fucosidosis Revisited:A Review of 77 Patients
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Thalamic Hemorrhage with Intraventricular Hemorrhage in the Full-Term Newborn
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Joubert Syndrome:A Clinico-Radiological Study
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Morbidity for Survivors of Extracorporeal Membrane Oxygenation:Neurodevelopmental Outcome at 1 Year of Age
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Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
Ann Neurol 25:547-554, Kuzniecky,R.,et al, 1989
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Rett Syndrome:Natural History and Management
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Alexander's Disease, A Disease of Astrocytes
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