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Showing articles 0 to 36 of 36

Filter Applied: metabolic disorder,primary (Click to remove)

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021

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

Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016

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

Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

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

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

Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
Acta Neurol Taiwan 17:177-183, Shen, F.,et al, 2008

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

Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001

Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000

Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998

Maternal Phenylketonuria:Magnetic Resonance Imaging of the Brain in Offspring
J Pediatr 128:770-775, Levy,H.L.,et al, 1996

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

Conditions That Mimic Stroke in the Emergency Department
Arch Neurol 52:1119-1122, Libman,R.B.,et al, 1995

Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989

The Reversible Dementias:Do They Reverse?
Ann Int Med 109:476-486, Clarfield,A.M., 1988

Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988

Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987

A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987

Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982

Brainstem Auditory Evoked Response in the Diagnosis of Pediatric Neurologic Diseases
Neurol 31:832-840, Hecox,K.E.,et al, 1981

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

Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
Arch Neurol 37:634-636, Weiss,G.M.,et al, 1980

Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
NEJM 295:62, Blass,J.P.,et al, 1976

Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966

Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965

Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962



Showing articles 0 to 36 of 36