Fucosidosis Revisited:A Review of 77 Patients
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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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Congenital Cytomegalovirus Infection
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Duchenne Muscular Dystrophy
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
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Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Early Child Development and Exposure to Antiepileptic Drugs Prenatally and Through Breastfeeding
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Sturge-Weber Syndrome
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Clinicopath Conf, Infantile Krabbe Disease
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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Neurodevelopment and Cognition in Children After Enterovirus 71 Infection
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Phenylketonuria
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Prader-Willi and Angelman Syndromes
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Neurodevelopmental Dysfunction Among Nonreferred Children with Idiopathic Megalencephaly
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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A Clinical Study of Noonan Syndrome
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Congenital Inflammatory Myopathy
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Neurological Deterioration in Young Adults with Phenylketonuria
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Cranial MR Imaging in Hypomelanosis of Ito
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Congenital Muscular Dystrophy
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Rett Syndrome:Natural History and Management
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
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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Congenital Ocular Motor Apraxia
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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