tangier disease/proteinurija

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Urinary proteins in a patient with Tangier disease.

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Prijava / prijava

We have investigated the possibility that the mild proteinuria in a patient with Tangier disease is directly related to the plasma HDL-deficiency through excretion of apolipoprotein A-I (Mr 28,300). An increased urinary excretion of a 29,000 polypeptide was observed in this patient. However, western

[Inborn errors of high-density lipoprotein metabolism].

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Prijava / prijava

Both low and very high levels of high-density lipoprotein cholesterol (HDL-C) increase the risk of atherosclerotic cardiovascular disease (ASCVD) and shorten life expectancy. Low and high levels of HDL‑C are often caused by underlying diseases, lifestyle or medication, which should primarily be

[Ocular manifestation in LCAT deficiency--a clinicopathological correlation].

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BACKGROUND Bilateral stromal corneal opacifications are important to detect potentially associated systemic diseases. Differential diagnosis includes, besides inflammatory diseases mucopolysaccharidoses, HDL deficiencies (LCAT deficiency, Tangier disease and fish eye disease), Schnyder's crystalline

Marked HDL deficiency and premature coronary heart disease.

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Prijava / prijava

OBJECTIVE Our purpose is to review recent publications in the area of marked human HDL deficiency, HDL particles, coronary heart disease (CHD), amyloidosis, the immune response, and kidney disease. RESULTS Lack of detectable plasma apolipoprotein (apo) A-I can be due to DNA deletions,

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