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Glycogen-Storage Disease Type II
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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Fucosidosis Revisited:A Review of 77 Patients
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Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
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Pattern of Malformations in the Children of Women Treated with Carbamazepine During Pregnancy
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Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
A Child with Arthrogryposis
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
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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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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Neurodevelopment and Cognition in Children After Enterovirus 71 Infection
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Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Valproate Embryopathy in Three Sets of Siblings: Further Proof of Hereditary Susceptibility
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders
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Gray Matter Heterotopia
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Valproic Acid Hepatic Fatalities. III. U. S. Experience Since 1986
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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
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Neurologic Status of HIV-1 Infected Infants and Their Controls:A Prospective Study from Birth to 2 Yrs
Pediatrics 98:1109-1118, Belman,A.L.,et al, 1996
Devel & Neurologic Status of Children after Heart Surgery with Hypothermic Circ Arrest or Low-Flow Cardiopul Bypass
NEJM 332:549-555, Bellinger,D.C.,et al, 1995
Effects of HIV on Cognitive & Motor Devel in Children Born to HIV-Seropositive Women with no Reported Drug Use:Birth-24 mo
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Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
A 10-Year Experience with Postpump Chorea
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Cognitive and Motor Development in Infants at Risk for Human Immunodeficiency Virus
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
The Spectrum of Lissencephaly:Report of Ten Patients Analyzed by Magnetic Resonance Imaging
Ann Neurol 30:139-146, Barkovich,A.J.,et al, 1991
Defective Glucose Transport Across the Blood-Brain Barrier as Cause of Hypoglycorrhachia, Seizures, and Devel Delay
NEJM 325:703-709, 7311991., DeVivo,D.C.,et al, 1991
Clinical and Morphometric Analysis of the Hypoplastic Corpus Callosum
Arch Neurol 48:933-936, Schaefer,G.B.,et al, 1991
Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990