A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Inherited Metabolic Diseases of the Nervous System, Galactosemia
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
Adams & Victors Principles of Neurology, Chp 37, pg 952, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007
Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979
Late Adult-onset Metachromatic Leukodystrophy
Arch Neurol 35:475, Bosch,E.P., 1978
The Cherry-red Spot-Myoclonus Syndrome
Ann Neurol 3:234, Rapin,I.,et al, 1978
Adult-onset GM2 Gangliosidosis
Neurol 28:1117-1123, O'Neill,B.,et al, 1978
Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977
Possible Pathophysiology of Neurologic Abnormalities assoc. with Nonketotic hyperglycinemia
NEJM 294:1295, Ramson,B.R., 1976
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Clinicopathologic Conference, Seizure from Neurocysticercosis
NEJM 385:1894-1902, Case 34-2021, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome
NEJM 378:1888-1897, Devinsky, O.,et al, 2018
Human Parechovirus: An Increasingly Recognized Cause of Sepsis-Like Illness in Young Infants
Clin Microbiol Reviews 31:1-17, Olijve, L.,et al, 2018
Seizing the Clinical Presentation in Adult Onset Stills Disease
Autoimmun Rev 14:472-477, Narula, N.,et al, 2015
Risk Factors of Hyperammonemia in Patients with Epilepsy Under Valproic Acid Therapy
Medicine 93:e66, Tseng, Y.L.,et al, 2014
Neuroimaging Features and Predictors of Outcome in Eclamptic Encephalopathy: A Prospective Observational Study
AJNR 35:1728-1734, Junewar, V.,et al, 2014
An Unusual Case of Adult-Onset Stills Disease with Hemophagocytic Syndrome, Necrotic Leukoencephalopathy and Disseminated Intravascular Coagulation
Case Reports Rheum Article ID 128623, Namas, R.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Hashimoto Encephalopathy (Steroid Responsive Encephalopathy Syndrome)
Adams & Victors Principles of Neurology Chp 40, pg 1155, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Intravascular Lymphoma
Adams & Victors Principles of Neurology, Chp 31, pg 663, Ropper, A.H.,et al, 2014
A 62-Yeal-Old Man with Fluctuating Neurological Deficits and Skin Lesions
JAMA Neurol 70:120-124, Konikkara, J.,et al, 2013
Evidence-based Guideline: Antiepileptic Drug Selection for People with HIV/AIDS
Neurol 78:139-145, Birbeck,G.L.,et al, 2012
Neurosacrcoidosis: Presentations and Management
Neurologist 16:2-15, Terushkin,V.,et al, 2010
Acute Hyperammonemic Encephalopathy in Adults: Imaging Findings
AJNR 32:413-418, U-King-Im,J.M.,et al, 2010
Clinicopath Conf. Rickets Due to Vitamin D Deficiency
NEJM 360:398-407, Case 3-2009, 2009
Assessment of Potential Drug Interactions in Patients with Epilepsy: Impact of Age and Sex
Neurol 72:419-425, Gidal,B.E.,et al, 2009
Neurosarcoidosis: A Study of 30 New Cases
JNNP 80:297-304, Joseph,F.G. &Scolding,N.J., 2009
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Anti-NMDA-Receptor Encephalitis: Case Series and Analysis of the Effects of Antibodies
Lancet Neurol 7:1091-1098, Dalmau,J.,et al, 2008
CT and MR Characteristics of Cerebral Sparganosis
AJNR 28:1700-1705, Song,T.,et al, 2007
Transmission of Lymphocytic Choriomeningitis Virus by Organ Transplantation
NEJM 354:2235-2249, Fischer,S.A.,et al, 2006
Seizures Following Reduction in Phenytoin Level After Orally Administered Folic Acid
Neurol 64:1982, Steinweg,D.L.&Bentley,M.L., 2005
Differential Effects of Antiepileptic Drugs on Sexual Function and Hormones in Men with Epilepsy
Neurol 65:1016-1020,980, Herzog,A.G.,et al, 2005
Cardiac Arrhythmias in Focal Epilepsy: A Prospective Long-Term Study
Lancet 364:2212-2219,2157, Rugg,F.J.,et al, 2004