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Showing articles 0 to 28 of 28

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

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

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

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

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
AJNR 36:194-201, Baker, E.H.,et al, 2015

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

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

Neonatal Epileptic Encephalopathy
Lancet 361:1614, Clayton,P.T.,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

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

Agenesis of the Corpus Callosum:A Marker for Inherited Metabolic Disease
Neurol 39:847-848, Kolodny,E.H., 1989

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

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

Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
Ann Neurol 20:364-366, Korf,B.,et al, 1986

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984

Lafora Disease:Liver Histopathology in Presymptomatic Children
Ann Neurol 14:86-89, Baumann,R.J.,et al, 1983

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

Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978

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

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



Showing articles 0 to 28 of 28