Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007
Clumsiness, Confusion, Coma, and Valproate
Lancet 353:1408, Ellaway,C.J.,et al, 1999
Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
Ann Int Med 120:216-217, Wong,L-J.C.,et al, 1994
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Neurobrucellosis:The Great Mimicker
Rev Soc Bras Med Trop 55:e0567-e2012, Soares,C.N.,et al, 2022
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017
Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 2017
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Neuroimaging Features and Predictors of Outcome in Eclamptic Encephalopathy: A Prospective Observational Study
AJNR 35:1728-1734, Junewar, V.,et al, 2014
Bone Marrow Necrosis and Fat Embolism Syndrome in Sickle Cell Disease: Increased Susceptibility of Patients with Non-SS genotypes and a Possible Association with Human Parvovirus B19 Infection
Blood Rev 28:23-30, Tsitsikas, D.A.,et al, 2014
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:1158-1192, Saposnik,G.,et al, 2011
Acute Hyperammonemic Encephalopathy in Adults: Imaging Findings
AJNR 32:413-418, U-King-Im,J.M.,et al, 2010
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Transmission of Lymphocytic Choriomeningitis Virus by Organ Transplantation
NEJM 354:2235-2249, Fischer,S.A.,et al, 2006
Control of Japanese Encephalitis--Within Our Grasp?
NEJM 355:869-871, Solomon,T., 2006
Central Nervous System Injury Associated with Cardiac Surgery
Lancet 368:694-703, Newman,M.F.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Intracranial Haemorrhages in French Haemophilia Patients (1991-2001): Clinical Presentation, Management and Prognosis Factors for Death
Haemophilia 11:452-458, Stieltjes,N.,et al, 2005
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Medical Complications in Long-Term Survivors with X-Linked Myotubular Myopathy
J Pediatr 134:206-214, Herman,G.E.,et al,, 1999
Interferon Treatment for Multiple Sclerosis:Autoimmune Complications May be Lethal
Neurol 50:570-571, Durelli,L.,et al, 1998
HIV-Protease Inhibitors
NEJM 338:1281-1292, Flexner,C., 1998
Tasmar (tolcapone) Labeling Revisions of Package Insert
Roche Laboratories, , 1998
Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Cognitive Impairment & Mortality in a Cohort of Elderly People
BMJ 312:608-611, Gale,C.R.,et al, 1996
Effect of Malnutrition after Acute Stroke on Clinical Outcome
Stroke 27:1028-1032, Davalos,A.,et al, 1996
Comparison of Therapeutic Effects & Mortality Data of Levodopa & Levodopa with Selegiline in Pts with Early, Mild Parkinson's
BMJ 311:1602-1607, 15831995., Lee,A.J.,et al, 1995
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
Hyperthermia and Heatstroke
Hospital Practice 29:65-68, 73, 78-80994., Simon,H.B., 1994
Survival of Profoundly Disabled People with Severe Mental Retardation
Am J Dis Child 147:329-336, Eyman,R.K.,et al, 1993
Functional Abilities at Age 4 Years of Children Born Before 29 Weeks of Gestation
BMJ 306:1715-1718, Johnson,A.,et al, 1993
Treatment of Convulsive Status Epilepticus
Recommendations of the Epilepsy Foundation of America's Working Group on Status Epilepticus, JAMA 27, :54-859,1993., 1993
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Long-Term Outcome of Neonatal Meningitis
Am J Dis Child 146:567-571, Franco,S.M.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Central Nervous System Magnesium Deficiency
Arch Int Med 151:593-596, Langley,W.F.&Mann,D., 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Cerebral Edema Causing Death in Children with Maple Syrup Urine Disease
J Pediatr 119:42-45, Riviello,J.J.,et al, 1991
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991