Total: 2 |
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PMID (PMCID) | ||
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11257260 |
FEMALE | Middle Aged |
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. | ||
Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S. Atherosclerosis. 2001;154(3):599-605. |
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However, none of the other features of Tangier disease, including hepatomegaly, anemia and peripheral neuropathy, were present. | ||
8432861 |
MIXED_SAMPLE | Middle Aged |
Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux. | ||
Cheung MC, Mendez AJ, Wolf AC, Knopp RH. J Clin Invest. 1993;91(2):522-9. |
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She had most of the clinical symptoms typically associated with Tangier disease, including early corneal opacities, yellow-streaked tonsils, hepatomegaly, and variable degrees of peripheral neuropathy, but had no splenomegaly. |