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Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Congenital Cytomegalovirus Infection
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Duchenne Muscular Dystrophy
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Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
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A Child with Arthrogryposis
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Management Issues for Women with Epilepsy,A Review of the Literature
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Valproic Acid Hepatic Fatalities. III. U. S. Experience Since 1986
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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
A 10-Year Experience with Postpump Chorea
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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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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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
Fucosidosis Revisited:A Review of 77 Patients
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Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
NEJM 313:16-19, 43-441985., Wolf,B.,et al, 1985
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Familial Porencephaly
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