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ammonia
carbamyl phosphate synthetase-I deficiency
CAT scan, abnormal
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enzyme, defect
inborn errors of metabolism
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mental status, abnormal
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urea-cycle enzymopathies
Showing articles 150 to 200 of 1443 << Previous Next >>

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

Thiamine Deficiency Presenting as Intraventricular Hemorrhage
Stroke 47:e95-e97, Al-Bayati, A.R.,et al, 2016

Clinicopathologic Conference, IgG4-Related Hypophysitis
NEJM 375:1469-1480, Case 31-2016, 2016

Bright Tongue Sign in Pompe Disease
Neurol 86:401, Karam, C., 2016

An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016

MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016

Randomized Trial of Stent Versus Surgery for Asymptomatic Carotid Stenosis
NEJM 374:DOI: 10.1056/NEJMoa1515706,, Rosenfield, K.,et al, 2016

Reversible Cognitive Decline Diagnosed on Ear Examination
BMJ 352:e1215, Ellis, R.J.B.,et al, 2016

Restless Legs Syndrome Associated with Major Diseases
Neurol 86:1336-1343, Trenkwalder, C.,et al, 2016

IgG4-related Disease Presenting with Headache and Papilloedema
BMJ Case Rep doi:10.1136/bcr-2016-216435, Lourenco, E.P.,et al, 2016

Chronic Hepatitis C Virus Infection and Neurological and Psychiatric Disorders
World J Gastroenterol 21:2269-2280, Adinolfi, L.E.,et al, 2015

Treatment of Brain Metastases
J Clin Oncol 33:3475-3484, Lin, X. & DeAngelis, L.M., 2015

IgG4-associated Orbital and Ocular Inflammation
J Ophthalmic Inflamm Infect 5:1-8, Lee,C.S.,et al, 2015

Diagnostic Criteria for IgG4-Related Ophthalmic Disease
Jpn J Ophthalmol 59:1-7, Goto,JH.,et al, 2015

"Noncognitive" Symptoms of Early Alzheimer Disease
Neurol 84:617-622, Masters, M.C.,et al, 2015

A Young Woman with Isolated Upbeating Nystagmus
Neurol 84:e17-e19, Ong, C.,et al, 2015

Assessment and Management of Behavioral and Psychological Symptoms of Dementia
BMJ 350:h369, Kales, H.C.,et al, 2015

Kleine-Levin Syndrome in 120 Patients: Differential Diagnosis and Long Episodes
Ann Neurol 77:529-540, Lavault, S.,et al, 2015

Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015

Clinicopathologic Conference, Invasive Neisseria Meningitidis Infection and Primary C8 Deficiency
NEJM 372:1454-1462, Case 11-2015, 2015

Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015

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

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

Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015

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

A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

The Acquired Metabolic Disorders of the Nervous System, Uremic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1145, Ropper, A.H.,et al, 2014

The Acquired Metabolic Disorders of the Nervous System, Hypothyroidism
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014

The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Nutritional Polyneuropathy (Neuropathic Beriberi)
Adams & Victors Principles of Neurology Chp 41, pg 1167, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Pellagra (Niacin, Nicotinic Acid, B3 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1170, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Pyridoxine (Vitamin B6 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1171, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Folate (B9 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin B12 (Cobalamin) Deficiency (Subacute Combined Degeneration)
Adams & Victors Principles of Neurology Chp 41, pg 1172, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1176, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Nutritional Optic and Peripheral Neuropathy, Tobacco-Alcohol Amblyopia, and Strochan Syndrome
Adams & Victors Principles of Neurology Chp 41, pg 1177, Ropper, A.H.,et al, 2014



Showing articles 150 to 200 of 1443 << Previous Next >>