Niemann-Pick; Type C

Neurology

Volumn 46, Issue 6, 1996, Pages 1785-1786

  Patterson, Marc C ^a   Pentchev, Peter G ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CHOLESTEROL ACYLTRANSFERASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; CELL CULTURE; CHILD; CLASSIFICATION; ENZYMOLOGY; ESTERIFICATION; FIBROBLAST; GENETICS; HUMAN; LYSOSOME; METABOLISM; NIEMANN PICK DISEASE; NOTE; ONSET AGE;

ADULT; AGE OF ONSET; CELLS, CULTURED; CHILD; CHOLESTEROL; ESTERIFICATION; FIBROBLASTS; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; LYSOSOMES; NIEMANN-PICK DISEASES; SPHINGOMYELIN PHOSPHODIESTERASE; STEROL O-ACYLTRANSFERASE;

EID: 0030162431     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.46.6.1785-b     Document Type: Letter

References (5)

1. Shulman LM, David NJ, Weiner WJ. Psychosis as the initial manifestation of adult-onset Niemann-Pick disease, type C. Neurology 1995;45:1739-1743.
2. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1991;1096:328-337.
3. Pentchev PG, Kruth HS, Comly ME, et al. Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and the esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts. J Biol Chem 1986;251:16775-16780.
4. Roff CF, Goldin E, Comly ME, et al. Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. Dev Neurosci 1991;13:315-319.
5. Pentchev PG, Vanier MT, Suzuki K, Patterson MC. Niemann-Pick disease, type C: a cellular cholesterol lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995:2625-2639.