Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Clinicopath Conf (Juvenile) Periarteritis Nodosa (Kawasaki Syndrome)
with Involvement of Subcutaneous ( & Cerebral) Arteries, Case 43-1986, NEJM 315:1143-1154, , 1986
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
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
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Griscelli Syndrome and CNS Lymphohistiocytosis
Neurol 82:e122-e123, Saini, A.G.,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
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Lethal African Trypanosomiasis in a Traveler: MRI and Neuropathology
Neurol 66:1094-1096,962, Braakman,H.M.H.,et al, 2006
POEMS Syndrome Associated with Ischemic Stroke
Arch Neurol 60:745-749, Kang, K.,et al, 2003
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
An Emotional 13-Year Old Girl
Lancet 348:1000, Kanabar,D.J.,et al, 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
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:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Progressive Rubella Panencephalitis
In Handbk of Clin Neurol, Vinken & Bruyn, Ed, N Holland Publ Co, 56:405-416, Wolinsky,J.S., 1990
Progressive Rubella Encephalitis
NEJM 292:990-993, 994-998, 1023-1024975., Townsend,J.J., 1975