Results 191 to 200 of about 30,962 (231)

Niemann-Pick Disease Types C and D

Neurologic Clinics, 1989
Patients grouped into categories termed type C Niemann-Pick disease and the Nova Scotia isolate called type D Niemann-Pick disease are characterized by mild to moderate hepatosplenomegaly, sea-blue histiocytes in the bone marrow, supranuclear gaze paresis in the vertical plane, slowly progressing ataxia, and mental deterioration. These signs are caused
R O, Brady, M R, Filling-Katz, N W, Barton, P G, Pentchev   +3 more
openaire   +2 more sources

Niemann-Pick disease type C: nodular splenomegaly

Abdominal Imaging, 1995
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the accumulation of sphingomyelin and cholesterol in the brain, liver, and spleen. The disease is usually diagnosed when neurological symptoms appear. We report an unusual presentation of NPCD in a young asymptomatic
L P, Omarini, S E, Frank-Burkhardt, T A, Seemayer, G, Mentha, F, Terrier   +4 more
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Therapy of Niemann–Pick disease, type C

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2004
Niemann-Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair ...
Marc C, Patterson, Frances, Platt
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NEUROFIBRILLARY TANGLES IN NIEMANN-PICK DISEASE TYPE C

Journal of Neuropathology and Experimental Neurology, 1995
Post-mortem neuropathological examination of five cases of Niemann-Pick disease type C revealed neurofibrillary tangles in many parts of the brain. Tangles were a consistent finding in the hippocampus, hypothalamus, substantia innominata, midbrain pons and medulla.
S, Love, L R, Bridges, C P, Case
openaire   +2 more sources

Spiral analysis in Niemann‐Pick disease type C

Movement Disorders, 2009
AbstractSpiral analysis is a computerized method of analyzing upper limb motor physiology through the quantification of spiral drawing. The objective of this study was to determine whether spirals drawn by patients with Niemann‐Pick disease type C (NPC) could be distinguished from those of controls, and to physiologically characterize movement ...
Hsu, Annie W., Piboolnurak, Panida A., Floyd, Alicia G., Yu, Qiping P., Wraith, James E., Patterson, Marc C., Pullman, Seth L.   +6 more
openaire   +3 more sources

Clinical spectrum of Niemann‐Pick disease type C

Neurology, 1989
Analysis of the neurologic symptomatology in 22 patients with Niemann-Pick disease type C revealed 3 phenotypes: (1) an early-onset, rapidly progressive form associated with severe hepatic dysfunction and psychomotor delay during infancy and later with supranuclear vertical gaze paresis, ataxia, marked spasticity, and dementia; (2) a delayed-onset ...
J. K. Fink, M. R. Filling-Katz, J. Sokol, D. G. Cogan, A. Pikus, B. Sonies, B. Soong, P. G. Pentchev, M. E. Comly, R. O. Brady, N. W. Barton   +10 more
openaire   +2 more sources

Pulmonary involvement in Niemann-Pick C type 1

European Journal of Pediatrics, 2018
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC2.
Orna, Staretz-Chacham, M, Aviram, I, Morag, A, Goldbart, E, Hershkovitz   +4 more
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Niemann-Pick Type C

Quezado Z, Miao N: Niemann-Pick Type C, 2022
Quezado, Zenaide, Miao, Ning
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Conjunctival Ultrastructure in Niemann-Pick Disease Type C

American Journal of Ophthalmology, 1980
A 5-year-old girl with Niemann-Pick disease type C had normal eyes but the conjunctival ultrastructure was abnormal. Lamellar cytoplasmic bodies, characteristic of Niemann-Pick disease, were found in epithelial cells, stromal fibroblasts, endothelial cells, and pericytes of the stromal capillaries.
S, Merin, N, Livni, S, Yatziv
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Niemann-Pick disease, type C and Roscoe Brady

Molecular Genetics and Metabolism, 2017
The Niemann-Pick family of diseases was poorly understood until Roscoe Brady and his colleagues began their investigations in the 1960s. Following Brady's discovery of the defect in acid sphingomyelinase in Niemann-Pick disease, types A and B, Peter Pentchev, a senior scientist in the group, launched a series of investigations of an unusual lipid ...
Marc C, Patterson, Steven U, Walkley
openaire   +2 more sources