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Neuroimaging Features of Biotinidase Deficiency
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Cognitive Delay in a 7-year-old Girl
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Clinicopath Conf, Infantile Krabbe Disease
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Angelman Syndrome Revisited
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Prader-Willi and Angelman Syndromes
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Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
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The Infant or Young Child with Developmental Delay
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Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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Angelman Syndrome: Clinical Profile
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Significance of Seizures Associated with Extracorporeal Membrane Oxygenation
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Neurological Deterioration in Young Adults with Phenylketonuria
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Neurofibromatosis Type 1 (Recklinghausen's Disease) , Neurologic and Cognitive Assessment
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Rett Syndrome:Natural History and Management
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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