An Interesting Case of Familial Homozygous Hypercholesterolemia—A Brief Review

Author:

Jayaram Shubha,Meera S.,Kadi Sumangala,Sreenivasa N.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Biochemistry

Reference13 articles.

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, vol. 2. 8th ed. New York: McGraw-Hill; 2001. p. 2863–913.

2. Rader DJ, Hobbs HH. Disorders of lipoprotein metabolism. In: Fauci AS, Braunwald E, Kasper DL, Hauser SL, Longo DL, Jameson JL, Loscalzo J, editors. Harrison’s principles of internal medicine. 17th ed. New York: The McGraw-Hill Companies, Inc.; 2008. p. 2416–28.

3. Lahiri BC, Lahiri K. Homozygous hypercholesterolemia with cutaneous and tendinous xanthomas in a child. Indian J Dermatol. 2000;45:205–7.

4. Carter GA, Connor WE, Bhattacharyya AK, Lin DS. The cholesterol turnover, synthesis, and absorption in two sisters with familial hypercholesterolemia (type IIa). J Lipid Res. 1979;20:66–77.

5. Ose L. Muller–Harbitz disease—familial hypercholesterolemia. Tidsskr Nor Laegeforen. 2002;122:924–5.

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1. Other Common Genetic Syndromes;Self-Assessment Questions for Clinical Molecular Genetics;2019

2. Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia;World Journal of Dermatology;2017-11-02

3. FAMILIAL HOMOZYGOUS HYPERCHOLESTEROLAEMIA- A CASE REPORT;Journal of Evolution of Medical and Dental Sciences;2017-03-02

4. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations;Atherosclerosis;2016-12

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