When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
Adams & Victors Principles of Neurology, Chp 37, pg 953, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
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
Uses and Technique of Pediatric Lumbar Puncture
Am J Dis Child 146:1160-1165, Ward,E.&Gushurst,C.A., 1992
Cerebral Edema Causing Death in Children with Maple Syrup Urine Disease
J Pediatr 119:42-45, Riviello,J.J.,et al, 1991
Intellectual Outcome in Children with Maple Syrup Urine Disease
J Pediatr 119:46-50, Kaplan,P.,et al, 1991
Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991
Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
CT & MRI in Maple Syrup Urine Disease
Neurol 38:486-488, Uziel,G.,et al, 1988
Cerebral Computed Tomography in Maple Syrup Urine Disease
J Comput Assist Tomogr 8:410-411, Romero,F.J.,et al, 1984
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982
Ophthalmoplegia & Bulbar Palsy in Variant Form of Maple Syrup Urine Disease
Ann Neurol 6:71-72, Chhabria,S.,et al, 1979
A Synd of Methylmal Acid, Homocystinuria, Megaloblas. Anemia & Neurol Abnor. in a Vit B-12-def Breast-fed Infant of veget
NEJM 299:317, Higginbottom,M.C., 1978
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
Free Amino Acid Levels in Amyotrophic Lateral Sclerosis
Ann Neurol 3:305, Patten,B.M.,et al, 1978
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
CNS Lesions in Cystinuria
Arch Neurol 34:638, Blackburn,C.R.B.,et al, 1977
Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
Neurol 27:971, MacDonald,J.T.,et al, 1977
Possible Pathophysiology of Neurologic Abnormalities assoc. with Nonketotic hyperglycinemia
NEJM 294:1295, Ramson,B.R., 1976
Pediatric Neurology
Psych Annals 2:1, , 1972
Encephalomyelopathy of Leigh
Editorial BMJ 238, 1971, May., , 1971
New Kind of PKU
Pediatrics Consultant Sept 1971, pp 68-70., Johnson,C., 1971
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
Metabolic Defects Associated with Mental Retardation
Am J Dis Child 104:401, Garell,D., 1962
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Clinicopathologic Conference, Lead Poisoning
NEJM 385:2378-2388, Case 38-2021, 2021
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021
Pain in Right Buttock after Carbon Monoxide Poisoning
BMJ 373:n1233, Hu, H. & Sun, Q., 2021
Cocaine and Levamisole Cerebral Toxicity
Ann Neurol 89:1253-1254, Allard, J.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Bismuth Neurotoxicity from Use of Topical Bismuth Dressing for Burns
Neurol 92:680-681, Saini, V.,et al, 2019
Clinicopathologic Conference, Ingestion of Isopropyl Alcohol
NEJM 380:1657-1665, Case 13-2019, 2019
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
A Case of Acute Encephalopathy and Rigidity in a 30-Year-Old Man
Neurol 93:759-763, Hurtubise, B. & MacLellan, A., 2019
Headache and Altered Mental Status
Neurol 90:e1267-e1270, Spera, K.M.,et al, 2018
Acute Amnestic Syndrome Associated with Fentanyl Overdose
NEJM 378:1157-1158, Barash, J.A., et al, 2018
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Wilson Disease
NIDDK Oct2018, , 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Cerebral Venous Sinus Thrombosis in Homocystinuria: Dietary Intervention in Conjunction with Anticoagulation
Sage Open Med Case Reports 5:1-4, Yap, S.,et al, 2017
Disparities and Guideline Adherence in Drugs of Abuse Screening in Intracerebral Hemorrhage
Neurol 88:252-258, Tomoehlen, L.M.,et al, 2017
A Young Woman with Respiratory Failure, Hearing Loss, and Paraplegia
Neurol 88:e78-e84, Ntranos, A.,et al, 2017
Clinicopathologic Conference, Primary Adrenal Insufficiency (Addisons Disease)
NEJM 376:1159-1167, Case 9-2017, 2017