Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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
Ann Neurol 34:820-826, Medlock,M.D.,et al, 1993
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
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
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
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
Neurol 51:949-956, Zahn,C.A.,et al, 1998
Valproic Acid Hepatic Fatalities. III. U. S. Experience Since 1986
Neurol 46:465-469, Bryant,A.E.&Dreifuss,F., 1996
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Gray Matter Heterotopias:MR Characteristics & Correlation with Develop & Neurologic Manifest
Radiology 182:493-499, Barkovich,A.J.&Kjos,B.O., 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
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
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
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
Arch Neurol 40:567-569, Berg,R.A.,et al, 1983
Congenital Anomalies & Herpesvirus Infection
Am J Dis Child 126:364, Montogomery,J.R.,et al, 1973