A woman with low HDL cholesterol and corneal opacity

Author:

Lucchi Tiziano,Calabresi Laura,Pinto Angela,Benetti Elisa,Arosio Beatrice,Simonelli Sara,Ratiglia Roberto,Vergani Carlo

Publisher

Springer Science and Business Media LLC

Subject

Emergency Medicine,Internal Medicine

Reference22 articles.

1. Santamarina-Fojo S, Hoef J, Assmann G, Brewer HB Jr (2001) Lecithin: cholesterol acyltransferase deficiency and fish-eye disease. In: Scriver CR, Beaudet A, Valle D, Sly WS (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw Hill, New York, pp 2817–2834

2. Jonas A (2000) Lecithin cholesterol acyltransferase. Biochim Biophys Acta 1529:245–256

3. Calabresi L, Pisciotta L, Costantin A et al (2005) The molecular basis of lecithin: cholesterol acyltransferase deficiency syndromes. A comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc Biol 25:1972–1978

4. Norum KR, Gjone E (1967) Familial serum-cholesterol failure: a new inborn error of metabolism. Biochim Biophys Acta 144:698–700

5. Carlson LA, Philipson B (1979) Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia. Lancet 2:922–924

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