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
Neuro-Sweet Disease Presenting as Ischemic Stroke and Aseptic Meningitis
Neurol 91:e2197-e2199, Das, A.S.,et al, 2018
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A Brewing Back Pain
NEJM 385:66-72, Pischel, L.,et al, 2021
Clinicopathologic Conference, AA Amyloidosis, Complicated by Cerebral Mucormycosis
NEJM 382:1457-1466, Case 11-2020, 2020
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
NEJM 377:2581-2590, Case 40-2017, 2017
A Man in His 40s with Headache, Lethargy, and Altered Mental Status
JAMA Neurol 72:1061-1065, McKee, K.E.,et al, 2015
An Unusual Case of Adult-Onset Stills Disease with Hemophagocytic Syndrome, Necrotic Leukoencephalopathy and Disseminated Intravascular Coagulation
Case Reports Rheum Article ID 128623, Namas, R.,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
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,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
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
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
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
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Neurologic manifestations of intravascular lymphomatosis
Acta Neurol Scand 91:494-499, Chapin, J.E.,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
Case Records of the MGH
Giant cell Angiitis, intracranial NEJM 295:9441976., , 1976
Neuropsychiatric Manifest. of SLE:Diagnosis, Clinical Spectrum, & Relationship to Other Features of the Disease
Medicine 55:323, Feinglass,E.J.,et al, 1976
Neurologic Manifest. of Infective Endocarditis:A Review
Stroke 4:958, Greenlee,J.E.,et al, 1973
Lymphomatoid Granulomatosis
Human Pathology 3:457, Liebow,A.,et al, 1972
Neurologic Complications of Polycythemia
Ann Int Med 57:909, Silverstein,A.,et al, 1962