81. ORPHANET - Enfermedades Raras - Medicamentos Huérfanos Translate this page Imprimir. ENFERMEDAD Fitosterolemia. Sinónimo(s) sitosterolemia. ICD E78.0.La descripción no está disponible. MIM 210250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=ES&Expert=2882

82. ORPHANET - Malattie Rare - Farmaci Orfani Translate this page Stampare. MALATTIA Fitosterolemia. Sinonimo(i) sitosterolemia. ICD E78.0.No description is available. MIM 210250. Tipo(i) di consulenze necessarie http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=IT&Expert=2882

83. Higher Blood Levels Of Sitosterol May Be Associated With Increased Risk For Coro Bhattacharyya AK, Connor, WE ßsitosterolemia and xanthomatosis. Beta-sitosterolemia. National Heart Lung and Blood Institute 2001 Rare Diseases Report http://www.scienceblog.com/community/older/2003/G/20034940.html

November 2003 From Porter Novelli Higher blood levels of sitosterol may be associated with increased risk for coronary events ORLANDO, Fla., Nov. 10, 2003 – Results from a nested, case-control study showed that patients with both high coronary risk and higher blood levels of sitosterol (1) (a plant sterol) were at an increased risk of a major coronary event compared to similar patients with lower blood levels of the plant sterol. These results were presented today at the 2003 American Heart Association's Scientific Sessions. Very high levels of plant sterols in the blood (levels ranging from 200 to 1570 µmol/L [2,3]) have been previously confirmed as a risk factor for coronary heart disease.(4) In this study, 177 cases (patients who suffered myocardial infarction [MI] or sudden coronary death within 10 years of follow-up) were selected from the PROCAM (Prospective Cardiovascular Muenster) study population. Each case was matched to two controls (n=354) from PROCAM based on age, gender, smoking status and date of investigation. Phytosterol concentrations, including sitosterol, were measured in samples collected at baseline in order to determine an association between phytosterol blood levels and increased risk for future coronary events. Results from the study, which was funded in part by Merck/Schering-Plough

84. The Scientist :: Cholesterol Efflux Genes, Nov. 19, 2002 sitosterolemia is a rare inherited disease in which plantderived KE Berge,et al., Accumulation of dietary cholesterol in sitosterolemia caused by http://www.the-scientist.com/news/20021119/02

Please login or register DAILY E-MAIL RSS HANDHELD CURRENT ISSUE DAILY NEWS UPFRONT FEATURE ... ARCHIVES Nov. 19, 2002 Previous Archive Next DAILY NEWS Cholesterol efflux genes ABCG5 and ABCG8 are major hepatobiliary transporters of sterols. By Tudor P. Toma Sitosterolemia is a rare inherited disease in which plant-derived sterols (sitosterol) accumulate in the body and lead to premature atherosclerotic plaques. The disease is caused by mutations in either of two ATP-binding cassette (ABC) half-transporters, ABCG5 or ABCG8 , but the exact role of these genes in the trafficking of sterols has been unclear. In November 18 early edition of Proceedings of the National Academy of Sciences , Liqing Yu and colleagues at the University of Texas Southwestern Medical Center at Dallas, USA, show that ABCG5 and ABCG8 are the major hepatobiliary transporter of both dietary and endogenously synthesized neutral sterols ( PNAS , cgi/doi/10.1073/pnas.252582399, November 18, 2002). Yu et al. generated mice homozygous for a disrupted Abcg5 and Abcg8 allele (G5G8 ), which they examined for the absorption and secretion of the major dietary plant and animal sterols. They observed that G5G8

85. The Scientist :: Cholesterol Efflux Genes, Nov. 19, 2002 AK Bhattacharyya, et al., Betasitosterolemia and xanthomatosis. A newly describedlipid storage disease in two sisters, Journal of Clinical Investigation http://www.the-scientist.com/news/20021119/02/printerfriendly

Nov. 19, 2002 return to webpage DAILY NEWS Cholesterol efflux genes ABCG5 and ABCG8 are major hepatobiliary transporters of sterols. By Tudor P. Toma Sitosterolemia is a rare inherited disease in which plant-derived sterols (sitosterol) accumulate in the body and lead to premature atherosclerotic plaques. The disease is caused by mutations in either of two ATP-binding cassette (ABC) half-transporters, ABCG5 or ABCG8 , but the exact role of these genes in the trafficking of sterols has been unclear. In November 18 early edition of Proceedings of the National Academy of Sciences , Liqing Yu and colleagues at the University of Texas Southwestern Medical Center at Dallas, USA, show that ABCG5 and ABCG8 are the major hepatobiliary transporter of both dietary and endogenously synthesized neutral sterols ( PNAS , cgi/doi/10.1073/pnas.252582399, November 18, 2002). Yu et al. generated mice homozygous for a disrupted Abcg5 and Abcg8 allele (G5G8 ), which they examined for the absorption and secretion of the major dietary plant and animal sterols. They observed that G5G8 mice had a two to threefold increase in the fractional absorption of dietary plant sterols, which was associated with an approximate 30-fold increase in plasma sitosterol. In addition they also observed a selective and profound reduction in biliary cholesterol levels and an accumulation of cholesterol in the liver after cholesterol feeding.

86. MGI_3.22 - References Query Results (Details) Title A mouse model of sitosterolemia absence of Abcg8/sterolin2 results infailure Based upon the genetics of sitosterolemia, ABCG5/sterolin-1 and http://www.informatics.jax.org/searches/reference.cgi?95750

87. MGI_3.22 - References Query Results (Details) Title sitosterolemia in ABCTransporter G5-deficient mice is aggravated onactivation of the liver-X receptor. Authors Plosch T; Bloks VW; Terasawa Y; http://www.informatics.jax.org/searches/reference.cgi?88191

88. Biennial And Annual Report On The Rare Diseases Research Activities At The Natio Betasitosterolemia is a rare inborn error of metabolism characterized by increased People with beta-sitosterolemia have a markedly increased risk of http://rarediseases.info.nih.gov/html/reports/Fy2004/nhlbi.html

Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004 National Heart, Lung, and Blood Institute (NHLBI) Overview of NHLBI Rare Diseases Research Activities The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in the causes, diagnosis, treatment, and prevention of diseases of the heart, blood vessels, lungs, and blood; in sleep disorders; and in the uses of blood and the management of blood resources. Through research in its own intramural laboratories and through extramural research grants and contracts, it conducts and supports an integrated program that includes basic research, clinical trials, epidemiological studies, and demonstration and education projects. Although the major part of the research supported by the NHLBI addresses common conditions such as hypertension, coronary heart disease, and chronic obstructive pulmonary disease, a significant amount of research is devoted to rare diseases in children and adults. NHLBI activities related to rare disease research in fiscal year (FY) 2004 are described below. Recent Scientific Advances in Rare Diseases Research Heart and Vascular Diseases Programs Abetalipoproteinemia Antiphospholipid Syndrome Antiphospholipid syndrome (APS) symptoms include recurrent blood clotting disorders, a history of fetal deaths, and autoimmune diseases such as thrombocytopenia. APS also increases the risk of developing atherosclerosis. Many patients with the disorder also have systemic lupus erythematosus (SLE). APS is characterized by the presence of circulating autoantibodies to certain phospholipid-binding proteins such as B

89. Science -- Sign In A striking exception occurs in sitosterolemia, an autosomal recessive disordercharacterized Phenotypic heterogeneity of sitosterolemia. J. Lipid Res. http://dx.doi.org/10.1126/science.290.5497.1771

You do not have access to this item: Abstract : Berge et al., Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in..., Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

90. Log In Problems However, in the condition termed sitosterolemia, sitosterol levels are 1530 Notably, patients with sitosterolemia harbored mutations in one or the http://www.medscape.com/viewarticle/459766

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91. NHLBI Rare Diseases Report, 2001 Betasitosterolemia is a rare inborn error of metabolism characterized by NHLBI supports research into beta-sitosterolemia through its intramural http://www.nhlbi.nih.gov/resources/docs/raredisrpt01.htm

HOME SITE INDEX CONTACT US TIPS ... Strategic Planning, Progress, and Program Review National Heart, Lung, and Blood Institute Rare Diseases Report FY 2001 Contents Overview of NHLBI Rare Diseases Research Activities Recent Scientific Advances in Research on Rare Diseases Heart and Vascular Diseases Program Abetalipoproteinemia ... Problem Areas Related to Rare Diseases Overview of NLHBI Rare Diseases Research Activities NHLBI provides leadership for a national program in the causes, diagnosis, treatment, and prevention of diseases of the heart, blood vessels, lungs, and blood, and sleep disorders, and in the uses of blood and the management of blood resources. It conducts and supports, through research in its own laboratories and through extramural research grants and contracts, an integrated and coordinated program that includes basic investigations, clinical trials, epidemiological studies, and demonstration and education projects. Although the major part of the research supported by NHLBI addresses common conditions such as hypertension, coronary heart disease, and chronic obstructive pulmonary disease, a significant amount of research is devoted to rare diseases in children and adults. NHLBI activities related to rare disease research in fiscal year (FY) 2001 are described below.

92. Dmoz.fr Health Conditions And Diseases Nutrition And Metabolism Disorders Choles Colegio Farmacéuticos de la Provincia de Santa Fe 1ª Circunscripción - Translate this page Agosto, 2003. sitosterolemia (Fitosterolemia). La sitosterolemia es una enfermedadextremadamente rara del metabolismo de los lípidos, caracterizada por el http://dmoz.fr/Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disorders

Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Sitosterolemia Dmoz.fr Annuaire Francophone Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Sitosterolemia : Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Sitosterolemia L'Open Directory Project est un et un annuaire francophone Version Fran§aise de Dmoz, annuaire francophone international DMOZ : ANGLAIS A propos de Dmoz proposer un site faire un lien ... aide sponsored links the entire directory only in Cholesterol_and_Other_Fats/Sitosterolemia Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Sitosterolemia Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Sitosterolemia " search on: All the Web AltaVista Gigablast Google USENET ... Volunteer to edit this category. Participez   la r©alisation du plus grand r©pertoire d'internet. Proposer un site Open Directory Project Devenir ©diteur Terms of Use ... Script Mirc Script IRC Powered by Adamah hebergement web Aab nom de domaine - ASP and SQL server technology

93. Clinical Study: 05-H-0060, A Study To Assess Adding Ezetimibe 30 Mg To Ongoing T Patients with homozygous sitosterolemia who are between 18 and 85 years of age Patient has a diagnosis of homozygous sitosterolemia, with a history of a http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2005-H-0060.html

94. News At AHA Higher Blood Levels Of Sitosterol May Be Associated binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum.Mutat . (4) Betasitosterolemia. National Heart Lung and Blood Institute 2001 http://www.prnewswire.co.uk/cgi/news/release?id=111580

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