Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Hydrocephalus
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Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Congenital Cytomegalovirus Infection
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A Child with Arthrogryposis
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Sturge-Weber Syndrome
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
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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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MRI in Methylmalonic Acidemia
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Neonatal MRI to Predict Neurodevelopmental Outcomes in Preterm Infants
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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Cystic Periventricular Leukomalacia and Type of Cerebral Palsy in Preterm Infants
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Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
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Cognitive and Motor Development in Infants at Risk for Human Immunodeficiency Virus
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Gray Matter Heterotopias:MR Characteristics & Correlation with Develop & Neurologic Manifest
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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A Clinical Study of Noonan Syndrome
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Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
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Thalamic Hemorrhage with Intraventricular Hemorrhage in the Full-Term Newborn
Pediatrics 85:737-742, Rowland,E.H.,et al, 1990
Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
Periventricular-Intraventricular Hemorrhage Sonographic Localization in Low Birth Weight Infants
Pediatrics 85:1027-1032, Krishamoorthy,K.,et al, 1990
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Morbidity for Survivors of Extracorporeal Membrane Oxygenation:Neurodevelopmental Outcome at 1 Year of Age
Pediatrics 83:72-78, Glass,P.,et al, 1989
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Congenital AIDS:Review of Neurological Problems
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
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Neurological Complications of Infantile Osteopetrosis
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