Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Neurologic Complications After Treatment for Whipple's Disease:A Report of Four Patients
Medicine 55:467, Knox,D.L.,et al, 1976
Neurologic Manifestations of SLE 1972
Nebraska State Journ Med, Oct 1972, pp 395., Aita,J., 1972
The Natural History of SLE by Prospective Analysis
Medicine 50:85, Estes,D.,et al, 1971
Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Clinicopath Conf., Adenocarcinoma with Metastasis to Liver, with Hypercoagulable State Resulting in Thrombophlebitis & Nonbacterial Thrombotic Endocarditis, with Multiple Embolic Infarcts (Trousseau's
NEJM 347:1187-1194, Case 31-2002, 2002
An Anaemic Infant in a Coma
Lancet 352:284, Kokori,H.,et al, 1998
Thrombotic Thrombocytopenic Purpura:A Treatable Cause of Childhood Encephalopathy
J Pediatr 130:313-316, Lawlor,E.R.,et al, 1997
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: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
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977
Whipple's Disease & Papilledema
Arch Int Med 123:74, Switz,D.M.,et al, 1969
Central Nervous System Manifestations of Periarteritis Nodosa
Neurol 15:114, Ford,R.G.,et al, 1965