Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
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
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
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
A 55-Year-Old Man with Rapidly Progressive Weakness and Numbness
Neurol 106:e218063, Li,X.,et al, 2026
Clinicopathologic Conference, Vitamin B12 Deficiency Due to Pernicious Anemia
NEJM 390:747-756, Case 6-2024, 2024
Infectious Mononucleosis: Rapid Evidence Review
Am Fam Physician 107:71-78, Sylventer,J.E.,et al, 2023
Clinicopathologic Conference, Disseminated Mycobacterium Bovis Infection
NEJM 384:651-662, Case 5-2021, 2021
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Clinicopathologic Conference, AA Amyloidosis, Complicated by Cerebral Mucormycosis
NEJM 382:1457-1466, Case 11-2020, 2020
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
A Young Woman with Blurred Vision and Distal Paresthesias
JAMA Neurol 72:1519-1523, Kung, N.H.,et al, 2015
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 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
Clinicopathologic Conference, Adult T-cell Leukemia-lymphoma Associated with HTLV-1
NEJM 367:552-563, Case 24-2012, 2012
Random skin biopsy and bone marrow biopsy for diagnosis of intravascular large B cell lymphoma
Ann Hematol 90:417-421, Matsue, K.,et al, 2011
Clinicopathologic Conference, hemophagocytic lymphohistiocytosis
NEJM 364:1259-1270, Case 10-2011, 2011
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
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
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
Neurologic manifestations of intravascular lymphomatosis
Acta Neurol Scand 91:494-499, Chapin, J.E.,et al, 1995
Clinicopath Conf
Lymphoma Involving Mandible & Nervous System, Case 27-1994, NEJM 331:107-1134., , 1994
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
Clinicopath Conf
Case 7-1992, Systemic Mastocytosis, NEJM 326:472-481992., , 1992
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
Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
Neurol 32:1295-1299, Longstreth,W.T.Jr.,et al, 1982
Neurologic Manifestations in Macroglobulinemia
In Vinken PJ, Bruyn GW, Eds, Handbook of Clin Neurol, Vol 39, North-Holland Publ Co, p. 189, Abramsky,O., 1980
Case Records of the MGH
Giant cell Angiitis, intracranial NEJM 295:9441976., , 1976
Whipple's Disease:A Review of 19 Pnts from one Hospital & a Review of the Literature since 1950
Medicine 49:175, Maizel,H.,et al, 1970