Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Infectious Mononucleosis in Adults and Adolescents
UpToDate, May, Aronson,M.D. & Auwaerter,P.G., 2011
Clinicopath Conference, Cryptococcosis With Cryptococcal Meningitis in Liver Allograft Recipient
NEJM 358:1604-1613, Case 11-2008, 2008
Liver Involvement in Celiac Disease
Minerva Med 99:595-604, Rubio-Tapia,A. & Murray,J.A., 2008
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
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Vitamin E Deficiency Associated with Vision Loss & Bulbar Weakness
Ann Neurol 18:725-727, Larsen,P.D.,et al, 1985