Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations-Reference-Cited by-同舟云学术

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Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations

Published:2013-08 Issue:8 Volume:23 Page:732-736
ISSN:0939-4753
Container-title:Nutrition, Metabolism and Cardiovascular Diseases
language:en
Short-container-title:Nutrition, Metabolism and Cardiovascular Diseases

Author:

Muntoni Sa.,Wiebusch H.,Jansen-Rust M.,Rust S.,Schulte H.,Berger K.,Pisciotta L.,Bertolini S.,Funke H.,Seedorf U.,Assmann G.

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Medicine (miscellaneous)

Reference39 articles.

1. Acid lipase deficiency: Wolman disease and cholesterol ester storage disease;Assmann,2001

2. Deficiency of an acid lipase in Wolman's disease;Patrick;Nature,1969

3. A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease;Seedorf;Arterioscler Thromb Vasc Biol,1995

4. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity;Aslanidis;Genomics,1996

5. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD);Muntoni;Hum Genet,1995

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study;International Journal of Molecular Sciences;2022-12-08

2. Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease;Frontiers in Genetics;2022-09-20

3. Lysosomal Acid Lipase Deficiency;Contemporary Cardiology;2020-12-16

4. Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature;World Journal of Clinical Cases;2020-05-06

5. LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters;Atherosclerosis;2020-03

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