Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinicopath Conf., Adenocarcinoma with Metastasis to Liver, with Hypercoagulable State Resulting in Thrombophlebitis & Nonbacterial Thrombotic Endocarditis, with Multiple Embolic Infarcts (Trousseau's
NEJM 347:1187-1194, Case 31-2002, 2002
MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
Clin Inf Dis 30:336-341, Lamas, C.C. & Eykyn, S.J., 2000
Amyloid Myopathy:An Underdiagnosed Entity
Ann Neurol 43:719-728, Spuler,S.,et al, 1999
Postpartum Coma
Lancet 351:1700, McCormack,G.,et al, 1998
An Anaemic Infant in a Coma
Lancet 352:284, Kokori,H.,et al, 1998
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
MR Findings in Isolated Oculomotor Nerve Palsy Associated with Infectious Mononucleosis Caused by Epstein-Barr Virus Infection
J Comput Assist Tomogr 22:995-997, Ishibashi,A.,et al, 1998
Thrombotic Thrombocytopenic Purpura:A Treatable Cause of Childhood Encephalopathy
J Pediatr 130:313-316, Lawlor,E.R.,et al, 1997
A 9-Year-Old With Fever and Severe Muscle Pains
Lancet 349:1666, Punda-Polic,V.,et al, 1997
A Boy with Heart Failure, A Thick Tongue, and Double Vision
Lancet 349:1516, Karstein,J.,et al, 1997
Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
Arch Neurol 54:1536-1541, Lossos,A.,et al, 1997
Clinicopath Conf
Large B-Cell Lymphoma with Subarachnoid & Periph Nr Invol (Neurolymphomatosis) Case 39-1997, NEJM 33, :1829,1997., 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Neurologic manifestations of intravascular lymphomatosis
Acta Neurol Scand 91:494-499, Chapin, J.E.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Clinicopath Conf
Lymphoma Involving Mandible & Nervous System, Case 27-1994, NEJM 331:107-1134., , 1994
POEMS Syndrome:A Study of 25 Cases and a Review of the Literature
Am J Med 97:543-553, Soubrier,M.J.,et al, 1994
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
Clinicopath Conf
Case 7-1992, Systemic Mastocytosis, NEJM 326:472-481992., , 1992
Hepatoma Presenting as Carniospinal Metastasis:Analysis of Sixteen Cases
JNNP 55:1037-1039, Lee,J., 1992
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Eosinophilia-Myalgia Syndrome, A Clinical Case Series of 21 Patients
Arch Int Med 151:533-537, Philen,R.M.,et al, 1991
Clinicopath Conf
Hepatic Encephalopathy in a 40-Year-Old Woman, Am J Med 90:374-3801991., , 1991
Angiofollicular Lymph Node Hyperplasia & Peripheral Neuropathy, Case Report & Literature Review
Arch Int Med 151:789-790, Scherokman,B.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Clinicopath Conf
Churg-Strauss Phenomena with Mononeuritis Multiplex, Case Record 38-1990, NEJM 323:812-822990., , 1990
Cerebral Thrombosis in B-Thalassemia/Hemoglobin E Disease
Stroke 21:812-816, Wong,V.,et al, 1990
Histoplasma Capsulatum Infections of the Central Nervous System
Medicine 69:244-260, Wheat,L.J.,et al, 1990
Acromegaly
NEJM 322:966-977, Melmed,S., 1990
Aseptic Meningitis Complicating Adult Kawasaki Disease:Case Report and Review of the Literature
Am J Med 87:106-110, McIlroy,M.A.,et al, 1989
Lyme Disease
NEJM 321:586-596, Steere,A.C., 1989
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Clinicopath Conf
Castleman's Disease, Synd of Polyneuropathy, Organomegally, Endocrinopathy, Monoclonal Gammopathy, &, Skin CPOEM Synd),NEJM 316:606-618,1987., 1987
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Proximal Weakness of the Extremities as Main Feature of Amyloid Myopathy
JNNP 50:1353-1358, Jennekens,F.G.I.&Wokke,J.H.J., 1987
Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Osteosclerotic Myeloma & Peripheral Neuropathy
Neurol 33:202-210, Kelly,J.J.,et al, 1983
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983