合計: 5 |
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PMID (PMCID) | ||
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22959828 |
MIXED_SAMPLE | Infant |
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. | ||
Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S. Mol Genet Metab. 2012;107(3):534-41. |
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Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD). | ||
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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The presence of low plasma levels of total cholesterol and high density lipoprotein (HDL) cholesterol (2.4 and 0.1 mmol/l) and apo AI (<15 mg/dl), associated with corneal lesions and a mild splenomegaly suggested the diagnosis of Tangier disease. | ||
11095479 |
MALE | Adult |
Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. | ||
Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T. J Clin Endocrinol Metab. 2000;85(11):4354-8. |
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Splenomegaly with sea-blue histiocytes is not associated with dyslipidemia, except in severe cases of hypertriglyceridemia, Tangier disease, or lecithin cholesterol acyltransferase deficiency. | ||
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. | ||
195100 |
MIXED_SAMPLE | Adult |
Tangier disease (alpha-lipoprotein deficiency). | ||
Brook JG, Lees RS, Yules JH, Cusack B. JAMA. 1977;238(4):332-4. |
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A patient with asymptomatic hypocholesterolemia, mild hyperbilirubinemia, and splenomegaly was found, on lipoprotein analysis, to have Tangier disease (alpha-lipoprotein deficiency). |