Literature DB >> 4660005

Cholesteryl ester storage disease: a most unusual manifestation of deficiency of two lysosomal enzyme activities.

D S Fredrickson, H R Sloan, V J Ferrans, S J Demosky.   

Abstract

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Year:  1972        PMID： 4660005

Source DB:  PubMed          Journal:  Trans Assoc Am Physicians        ISSN： 0066-9458


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  4 in total

1.  The pathology of Tangier disease. A light and electron microscopic study.

Authors:  V J Ferrans; D S Fredrickson
Journal:  Am J Pathol       Date:  1975-01       Impact factor: 4.307

2.  Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Authors:  Nathan O Stitziel; Sigrid W Fouchier; Barbara Sjouke; Gina M Peloso; Alessa M Moscoso; Paul L Auer; Anuj Goel; Bruna Gigante; Timothy A Barnes; Olle Melander; Marju Orho-Melander; Stefano Duga; Suthesh Sivapalaratnam; Majid Nikpay; Nicola Martinelli; Domenico Girelli; Rebecca D Jackson; Charles Kooperberg; Leslie A Lange; Diego Ardissino; Ruth McPherson; Martin Farrall; Hugh Watkins; Muredach P Reilly; Daniel J Rader; Ulf de Faire; Heribert Schunkert; Jeanette Erdmann; Nilesh J Samani; Lawrence Charnas; David Altshuler; Stacey Gabriel; John J P Kastelein; Joep C Defesche; Aart J Nederveen; Sekar Kathiresan; G Kees Hovingh
Journal:  Arterioscler Thromb Vasc Biol       Date:  2013-09-26       Impact factor: 8.311

3.  Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

Authors:  J M Hoeg; S J Demosky; O H Pescovitz; H B Brewer
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

4.  Cellular cholesterol ester accumulation induced by free cholesterol-rich lipid dispersions.

Authors:  L Y Arbogast; G H Rothblat; M H Leslie; R A Cooper
Journal:  Proc Natl Acad Sci U S A       Date:  1976-10       Impact factor: 11.205
  4 in total

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