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Differential
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aminoacidopathies
aminoacidurias
aminoacylase 1 deficiency
cirrhosis, infancy
enzyme, defect
hypotonia
inborn errors of metabolism
neurologic signs
seizure
Showing articles 0 to 50 of 2340 Next >>

Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007

MR Imaging Findings in Anti-Leucine-Rich Glioma Inactivated Protein 1 Encephalitis:A Systematic Review and Meta-Analysis
AJNR 45:977-986, Almeida,F.C.,et al, 2024

Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020

Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015

Wernicke-Korsakoff Syndrome not Related to Alcohol Use: A Systematic Review
JNNP 86:1362-1368, Scalzo, S.J.,et al, 2015

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
JAMA Neurol 70:1440-1444, Leen, W.G.,et al, 2013

Differential Diagnosis of a Low CSF Glucose in Children and Young Adults
Neurol 81:e178-e181, Leen, W.G.,et al, 2013

Immunotherapy-Responsive Chorea as the Presenting Feature of LGI1-Antibody Encephalitis
Neurol 79:195-196, Tofaris,G.K.,et al, 2012

Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011

Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009

Small Fiber Neuropathy: A Burning Problem
Cleve Clin J Med 76:297-305, Tavee, J. & Zhou, L., 2009

Effect of Simvastatin on Cognitive Functioning in Children With Neurofibromatosis Type 1: A Randomized Controlled Trial
JAMA 300:287-294, Krab,L.C.,et al., 2008

Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
Neurol 65:1364-1369,1346, Zanni,G.,et al, 2005

Protein S Deficiency in HIV Associated Ischaemic Stroke:An Epiphenomenon of HIV Infection
JNNP 76:1455-1456,1331, Mochan,A.,et al, 2005

Wernicke's Encephalopathy in AIDS: A Preventable Cause of Fatal Neurological Deficit
Int J STD AIDS 14:712-713, Alcaide,M.L.,et al, 2003

Abnormal Cobalamin-dependent Transmethylation in AIDS-associated Myelopathy
Neurol 58:730-735, Di Rocco,A.,et al, 2002

Cytomegalovirus Ventriculoencephalitis Presenting as a Wernicke's Encephalopathy-like Sydrome
Neurol 55:1910-1913, Torgovnick,J.,et al, 2000

Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998

Cognitive Function and Academic Performance in Neurofibromatosis 1:North
K. N. , et al, Neurol 48:1121-11277., , 1997

Human Immunodeficiency Virus Infection and Stroke in Young Patients
Arch Neurol 54:1150-1153, Qureshi,A.I.,et al, 1997

Plasma Cobalamin Levels Affect Information Processing Speed in a Longitudinal Study of HIV-1 Disease
Arch Neurol 52:195-198, Shor-Posner,G.,et al, 1995

Correlation Between CAT Scan Abnormalities & Neuropsychological Function in Children with Symptomatic HIV Disease
Arch Neurol 52:39-44, Brouwers,P.,et al, 1995

Dementia Associated with the Acquired Immunodeficiency Syndrome
NEJM 332:934-940, Lipton,S.A.&Gendelman,H.E., 1995

Effects of HIV on Cognitive & Motor Devel in Children Born to HIV-Seropositive Women with no Reported Drug Use:Birth-24 mo
Pediatrics 96:1078-1082, Gay,C.L.,et al, 1995

Neurofibromatosis Type 1:The Cognitive Phenotype
J Pediatr 124:S1-S8, Hofman,K.J.,et al, 1994

Specific Learning Disability in Children with Neurofibromatosis Type 1:Significance of MRI Abnormalities
Neurol 44:878-883, North,K.,et al, 1994

Vitamin B12 Deficiency and Nervous System Disease in HIV Infection
Arch Neurol 50:807-811, Robertson,K.R.,et al, 1993

HIV Encephalopathy and Dementia
Psychiatr Clin North Am 15:455-466, Pajeau,A.K.&Roman,G.C., 1992

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

Plasma Vitamin B12 Level as a Potential Cofactor in Studies of HIV Type 1-Related Cognitive Changes
Arch Neurol 49:501-506, Beach,R.S.,et al, 1992

Cognitive Assessment of Human Immunodeficiency Virus-Exposed Children
Am J Dis Child 146:1479-1483, Levenson,R.L.,et al, 1992

Cerebral Artery Aneurysms in Children Infected with Human Immunodeficiency Virus
J Pediatr 121:927-930, Husson,R.N.,et al, 1992

Manic Syndrome in AIDS
Am J Psychiatry 148:1068-1070, Kieburtz,K.,et al, 1991

A Randomized, Controlled Trial of Foscarnet in the Treatment of Cytomegalovirus Retinitis in Pts with AIDS
Ann Int Med 115:665-673, Palestine,A.G.,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

Abnormal Vitamin B12 Metabolism in Human Immunodeficiency Virus Infection
Arch Neurol 48:312-314, Kieburtz,K.D.,et al, 1991

Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990

Wernicke's Encephalopathy in Two Patients with Acquired Immunodeficiency Syndrome
J Neurol 237:445-447, Schwenk,J.,et al, 1990

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

Human Immunodeficiency Virus (HIV) Infection and the Nervous System:Report from The American Academy of Neurology AIDS Task Force
Neurol 39:119-122, , 1989

The Acquired Immunodeficiency Syndrome (AIDS) Dementia Complex
Ann Int Med 111:400-410, Ho,D.D.,et al, 1989

Neurofibromatosis Type 1 (Recklinghausen's Disease) , Neurologic and Cognitive Assessment
Am J Dis Child 143:833-837, Eldridge,R.,et al, 1989

AIDS and the Nervous System
JAMA 261:2396-2399, Dalakas,M.,et al, 1989

Low Prevalence of Neurological and Neuropsych Abn in Healthy HIV-1-Infected Indiv
Ann Neurol 26:601-611, McArthur,J.C.,et al, 1989

Neurological and Neuropsych Manif of HIV-1:Assoc with ARC not Aympto HIV-1 Infection
Ann Neurol 26:592-600, Janssen,R.S.,et al, 1989

Neuropathology of HIV Infection in Haemophiliacs:Comparative Necropsy Study
BMJ 299:1312-1315, Esiri,M.M.,et al, 1989



Showing articles 0 to 50 of 2340 Next >>