Sitosterolemia Presenting With Severe Hypercholesterolemia and Intertriginous Xanthomas in a Breastfed Infant: Case Report and Brief Review-Reference-Cited by-同舟云学术

Sitosterolemia Presenting With Severe Hypercholesterolemia and Intertriginous Xanthomas in a Breastfed Infant: Case Report and Brief Review

Published:2014-05-01 Issue:5 Volume:99 Page:1512-1518
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Park Joong Heum¹,Chung In Hyuk¹,Kim Dong Hyun²,Choi Man Ho³,Garg Abhimanyu⁴,Yoo Eun-Gyong¹

Affiliation:

1. Departments of Pediatrics (J.H.P., I.H.C., E.-G.Y.), Sungnam 463-712, Korea

2. Dermatology (D.H.K.), CHA University, Sungnam 463-712, Korea

3. Future Convergence Research Division (M.H.C.), Korea Institute of Science and Technology, Seoul 136-791, Korea

4. Division of Nutrition and Metabolic Diseases (A.G.), Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas 75390

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/99/5/1512/9046860/jcem1512.pdf

Reference30 articles.

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2. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively;Lu;Am J Hum Genet,2001

3. Sitosterolemia;Salen;J Lipid Res,1992

4. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters;Bhattacharyya;J Clin Invest,1974

5. Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis;Miettinen;Eur J Clin Invest,1980

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