Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
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
Two Uncommon Causes of Guillain-Barr� Syndrome: Hepatitis E and Japanese Encephalitis
Case Reports Neurol Med Art ID:759495, Bandyopadhyay, D.,et al, 2015
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 2024
Childhood Seizures After Phototherapy
Pediatrics 142:e20180648, Newman, T.B.,et al, 2018
Wilson Disease
NIDDK Oct2018, , 2018
Clinicopathologic Conference, Cerebral Infarction from Internal Carotid Occlusion Related to Sickle Cell Arteriopathy
NEJM 374:1265-1275, Case 10-2016, 2016
Clinicopathologic Conference, Fulminant Liver Failure Associated with Hepatitis B Virus Infection
NEJM 375:163-171, Case 21-2016, 2016
Clinical Features, Diagnosis, and Treatment of Disseminated Intravascular Coagulation in Adults
UptoDate, Leung, L.L.K., 2015
The Acquired Metabolic Disorders of the Nervous System, Hepatic Stupor and Coma (Hepatic, or Portal-Systemic Encephalopathy)
Adams & Victors Principles of Neurology Chp 40, pg 1142, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
Infectious Mononucleosis in Adults and Adolescents
UpToDate, May, Aronson,M.D. & Auwaerter,P.G., 2011
Liver Involvement in Celiac Disease
Minerva Med 99:595-604, Rubio-Tapia,A. & Murray,J.A., 2008
Acute Mycoplasma Pneumoniae Infection Presenting as Cholestatic Hepatitis
J Clin Microbiol 41:514-515, Grullich, C.,et al, 2003
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Cerebral Thrombosis in B-Thalassemia/Hemoglobin E Disease
Stroke 21:812-816, Wong,V.,et al, 1990