Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986
Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Clinicopathologic Conference, Infective Endocarditis and Infectious Aortitis due to Staphylococcus Aureus
NEJM 370:651-660, Case 5-2014, 2014
Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
NEJM 36:944-954, Case 7-2012, 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Infectious Mononucleosis in Adults and Adolescents
UpToDate, May, Aronson,M.D. & Auwaerter,P.G., 2011
Progressive Multifocal Leukoencephalopathy in Individuals with Minimal or Occult Immunosuppression
JNNP 81:247-254, Gheuens,S., et al, 2010
Rhabdomyolysis: An Evaluation of 475 Hospitalized Patients
Medicine 84:377-385, Melli,G.,et al, 2005
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Clinicopath Conf,Systemic Sclerosis with Scleroderma Renal Crisis
NEJM 345:596-605, Case 26-2001, 2001
Microscopic Polyangiitis: Clinical and Laboratory Findings in Eighty-five Patients
Arthritis Rheum 42:421--430, Guillevin, L.,et al, 1999
Intravenous Immune Globulin Therapy for Neurologic Diseases
Ann Int Med 126:721-730, Dalakas,M.C., 1997
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992
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
Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990
Human Leptospirosis-A Review of 50 Cases
Infection 17:10-14, Lecour,H.,et al, 1989
Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988
Cholesterol Crystal Embolization:A Review of 221 Cases in the English Literature
Angiology 38:769-784, Fine,M.J.,et al, 1987