Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021
A Brewing Back Pain
NEJM 385:66-72, Pischel, L.,et al, 2021
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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A Headache of a Diagnosis
NEJM 379:475-479, Stern,R.M.,et al, 2018
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Clinicopathologic Conference, Paroxysmal Nocturnal Hemoglobinuria
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Wilson Disease
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A Young Woman with Blurred Vision and Distal Paresthesias
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
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Random skin biopsy and bone marrow biopsy for diagnosis of intravascular large B cell lymphoma
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Cogan Syndrome
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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An Anaemic Infant in a Coma
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Thrombotic Thrombocytopenic Purpura:A Treatable Cause of Childhood Encephalopathy
J Pediatr 130:313-316, Lawlor,E.R.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
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
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
Eosinophilia-Myalgia Syndrome, A Clinical Case Series of 21 Patients
Arch Int Med 151:533-537, Philen,R.M.,et al, 1991
Angiofollicular Lymph Node Hyperplasia & Peripheral Neuropathy, Case Report & Literature Review
Arch Int Med 151:789-790, Scherokman,B.,et al, 1991
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Histoplasma Capsulatum Infections of the Central Nervous System
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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
Human Leptospirosis-A Review of 50 Cases
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Neurologic Manifestations in Macroglobulinemia
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Diagnosis of Treatable Wilson's Disease
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Idiopathic Thrombocytosis
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