[Gastroenterologic diagnosis of hypolipoproteinemias with special emphasis on Tangier disease]. 1978

T Gheorghiu, and G Assmann, and R Mies, and H E Schaefer

UI MeSH Term Description Entries
D007009 Hypolipoproteinemias Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins). Hypolipoproteinemia,Hypoprebetalipoproteinemia
D008077 Lipoproteins, LDL A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL function is to transport cholesterol and cholesterol esters to extrahepatic tissues. Low-Density Lipoprotein,Low-Density Lipoproteins,beta-Lipoprotein,beta-Lipoproteins,LDL(1),LDL(2),LDL-1,LDL-2,LDL1,LDL2,Low-Density Lipoprotein 1,Low-Density Lipoprotein 2,LDL Lipoproteins,Lipoprotein, Low-Density,Lipoproteins, Low-Density,Low Density Lipoprotein,Low Density Lipoprotein 1,Low Density Lipoprotein 2,Low Density Lipoproteins,beta Lipoprotein,beta Lipoproteins
D004724 Endoscopy Procedures of applying ENDOSCOPES for disease diagnosis and treatment. Endoscopy involves passing an optical instrument through a small incision in the skin i.e., percutaneous; or through a natural orifice and along natural body pathways such as the digestive tract; and/or through an incision in the wall of a tubular structure or organ, i.e. transluminal, to examine or perform surgery on the interior parts of the body. Endoscopic Surgical Procedures,Surgical Procedures, Endoscopic,Endoscopic Surgical Procedure,Endoscopy, Surgical,Surgical Endoscopy,Surgical Procedure, Endoscopic,Procedure, Endoscopic Surgical,Procedures, Endoscopic Surgical
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies
D013631 Tangier Disease An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD. A-alphalipoprotein Neuropathy,Analphalipoproteinemia,Tangier Disease Neuropathy,Alpha High Density Lipoprotein Deficiency Disease,Cholesterol Thesaurismosis,HDLDT1,High Density Lipoprotein Deficiency, Tangier Type,High Density Lipoprotein Deficiency, Type 1,High-Density Lipoprotein Deficiency, Tangier Type,High-Density Lipoprotein Deficiency, Type I,Neuropathy of Tangier Disease,Tangier Hereditary Neuropathy,A-alphalipoprotein Neuropathies,Analphalipoproteinemias,Cholesterol Thesaurismoses,High Density Lipoprotein Deficiency, Type I,Neuropathies, A-alphalipoprotein,Neuropathy, A-alphalipoprotein,Thesaurismoses, Cholesterol,Thesaurismosis, Cholesterol

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