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Showing articles 0 to 38 of 38

Filter Applied: developmental retardation (Click to remove)

An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020

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

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

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

MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010

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

Cognitive Development of Yu-Cheng ('Oil Disease') Children Prenatally Exposed to Heat-Degraded PCBs
JAMA 268:3213-3218, Chen,Y.J.,et al, 1992

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

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

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018

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

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

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

Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014

Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013

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

Phenylketonuria
eMedicine (December), Arnold,G.L., 2007

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

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

Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003

Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders
Pediatrics 106:358-361, Jacobs,E.A. et al, 2000

Aluminum Neurotoxicity in Preterm Infants Receiving Intravenous-Feeding Solutions
NEJM 336:1557-1561, Bishop,N.J.,et al, 1997

Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995

Cognitive and Motor Development in Infants at Risk for Human Immunodeficiency Virus
Am J Dis Child 146:218-222, Aylward,E.H.,et al, 1992

Environmental Exposure to Lead & Children's Intelligence at Age 7 Years
NEJM 327:1279-1284, 13081992., Baghurst,P.A.,et al, 1992

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

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

Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989

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

Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985

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

Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981

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

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



Showing articles 0 to 38 of 38