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Showing articles 0 to 39 of 39

Filter Applied: developmental retardation (Click to remove)

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010

Gray Matter Heterotopia
Neurol 55:1603-1608, Barkovich,A.J. & Kuzniecky,R.I., 2000

Subcortical Heterotopia:A Distinct Clinicoradiologic Entity
AJNR 17:1315-1322, Barkovich,A.J., 1996

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

Gray Matter Heterotopias:MR Characteristics & Correlation with Develop & Neurologic Manifest
Radiology 182:493-499, Barkovich,A.J.&Kjos,B.O., 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

Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
Ann Neurol 25:547-554, Kuzniecky,R.,et al, 1989

MR of Neuronal Migration Anomalies
AJR 150:179-187, Barkovich,A.J.,et al, 1988

Fetal Methylmercury Poisoning:Clinical & Toxicological Data on 29 Cases
Ann Neurol 7:348-353, Marsh,D.O.,et al, 1980

The Aicardi Syndrome:Report of 4 Cases & Review of the Literature
Ann Neurol 5:475-482, Bertoni,J.M.,et al, 1979

A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024

Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014

GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011

Neurodevelopment and Cognition in Children After Enterovirus 71 Infection
NEJM 356:1226-1234, Chang,L.-Y.,et al, 2007

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004

Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Optic Nerve Enlargement in Krabbe's Disease
AJNR 20:1228-1231, Jones,B.V.,et al, 1999

New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999

Valproic Acid Hepatic Fatalities. III. U. S. Experience Since 1986
Neurol 46:465-469, Bryant,A.E.&Dreifuss,F., 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

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

Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982

Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980

Growth & Development in Children with Sickle-Cell Trait
NEJM 299:686-689, Kramer,M.S.,et al, 1978

Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977

A Comparison of the Physical & Intellectual Development of Black Children with & without Sickle-Cell Trait
Pediatrics 56:1021, McCormack,M.K.,et al, 1975



Showing articles 0 to 39 of 39