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ammonia
carbamyl phosphate synthetase-I deficiency
CAT scan, abnormal
coma
enzyme, defect
inborn errors of metabolism
mental retardation
mental status, abnormal
mortality
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Showing articles 100 to 150 of 1429 << Previous Next >>

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018

Neurological Manifestations Among US Government Personnel Reporting Directional Audible and Sensory Phenomena in Havana, Cuba
JAMA 319:1125-1133, 1098, 1079, Swanson, R.L.,et al, 2018

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

A 12-year-old girl with headache and change in mental status
Neurol 90:524-529, Patel, P.,et al, 2018

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
AJNR 39:427-434, Gramegna, L.L.,et al, 2018

Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018

Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018

Clinicopathologic Conference, Poststroke Mania and the Frontal Lobe Syndrome
NEJM 379:182-189, Case 21-2018, 2018

Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

Selenium Toxicity Associated with Reversible Leukoencephalopathy and Cortical Blindness
JAMA Neurol 75:1282-1283, Rae, W.,et al, 2018

Subacute Progressive Ptosis, Ophthalmoplegia, Gait Instability, and Cognitive Changes
JAMA Neurol 75:1284-1285, Lin, J.,et al, 2018

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

IGG4-Related Hypertrophic Pachymeningitis Coexpressing Antineutrophil Cytoplasmic Antibodies
Neurol 4:e341-e343, Massey, J., 2017

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017

Menkes Disease Mimicking Child Abuse
Pediat Dermatol 34:e132-e134, Droms, R.J.,et al, 2017

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

Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017

Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017

Cranial Nerve Hypertrophy in IgG4 Anti-Neurofascin 155 Antibody-Positive Polyneuropathy
Neurol 88:e52, Franques, J.,et al, 2017

Clinicopathologic Conference, IgG4-Related Vasculitis
NEJM 376:775-786, Case 6-2017, 2017

A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017

Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017

Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017

Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017

Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017

Overview of IgG4-related Disease
UptoDate, July, Moutsopoulos,H.,et al, 2017

A 27-year-old man with unsteady gait
Neurol 89:e120-e123, Fernandez, D.,et al, 2017

Sarcoidosis Limbic Encephalitis
Iran J Neurol 16:156-158, Toudou-Daouda, M.,et al, 2017

A 55-year-old Man with Rapidly Progressive Dementia and Parkinsonism
Neurol 89:e182-e187, Tabuas-Pereira, M.,et al, 2017

MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017

A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017

Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017

Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017

Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017

Hashimotos Thyroiditis and Autoimmune Gastritis
Front Endocrinol 8:00092, Cellini,Miriam,et al, 2017

Cerebral White Matter Abnormalities in Patients with Charcot-Marie-Tooth Disease
Ann Neurol 81:147-151, Lee, M.,et al, 2017

A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016

Tongue Fasciculations in Organophosphate Poisoning
NEJM 375:e47, Bande, L.R., 2016

A Young Man with Recurrent Coma and Refractory Status Epilepticus
JAMA Neurol 73:1243-1244, Sheikh, Z.,et al, 2016

Wenicke Encephalopathy
Neurol 87:1956-1957, Hattingen, E.,et al, 2016

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

A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016

A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016



Showing articles 100 to 150 of 1429 << Previous Next >>