1. Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it.Category Health Conditions and Diseases sitosterolemia......WESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipiddisorder sitosterolemia has been localized to a defined region on chromosome http://www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm

WESTPORT, Sep 16 (Reuters) - The gene responsible for the uncommon genetic lipid disorder sitosterolemia has been localized to a defined region on chromosome 2p21.The researchers reporting the finding suggest that identification of the gene could elucidate the mechanisms underlying cholesterol absorption, and lead to potential treatments for sitosterolemia itself. Patients with sitosterolemia "...appear to hyperabsorb both cholesterol and plant sterols from the intestine," Dr. Shailendra B. Patel of the University of Texas Southwestern Medical Center in Dallas and a multicenter team explain.They studied 10 families with the disorder in order to begin to identify the gene responsible for the disease. "The disease locus for sitosterolemia maps to 2p21, to an interval no larger than 15 cM, spanned by the microsatellite markers D2S1788 and D2S1352," Dr. Patel and associates report in the September 1st issue of The Journal of Clinical Investigation.Based on the different races of the 10 families and the lack of genetic heterogeneity, the authors suspect that "...there is only one locus that is responsible for causing this disease." Of the genes already mapped to this region, the researchers say, none is likely to be a candidate for the sitosterolemia gene "...based on their known and/or proposed functions."They hope that the eventual identification of the gene responsible for this disorder will help clarify the processes underlying cholesterol metabolism and sterol identification and elimination.

2. Press Release A press release with a brief explanation of this disease. http://www.musc.edu/frd/P200047ncs.htm

Identification of a gene responsible for regulation of body sterols Non-Confidential Summary Summary: Sitosterolemia is due to an autosomal recessive single gene defect that leads to net retention of dietary cholesterol and abnormal retention of non-cholesteral sterols in the body. This results in increased atherosclerotic heart disease. We have identified the gene defect. Our evidence is that many of our probands with sitosterolemia have this defect. It is our hypothesis that this gene and its protein product may be useful targets in developing pharmacological therapies aimed at alleviating cardiovascular disease. Objective: MUSC seeks licensees for screening compounds against this target. For additional information, contact: M. Pearce Gilbert Program Manager for Technology Transfer MUSC Foundation for Research Development 261 Calhoun Street, Suite 305 Charleston, SC 29425 T: 843-876-1900 F: 843-876-1905 E: gilbertp@musc.edu

3. EMedicine - Sitosterolemia : Article Excerpt By: Robert D Steiner, MD to view the full topic text sitosterolemia. Background sitosterolemia is a rare inherited plant sterol storage disease. http://www.emedicine.com/ped/byname/sitosterolemia.htm

(advertisement) Excerpt from Sitosterolemia Synonyms, Key Words, and Related Terms: phytosterolemia, pseudohomozygous familial hypercholesterolemia Please click here to view the full topic text: Sitosterolemia Background: Sitosterolemia is a rare inherited plant sterol storage disease. Bhattacharyya and Connor first described this disease in 1974. The original report detailed 2 sisters who presented with extensive tendon xanthomas but normal plasma cholesterol levels. Subsequently, they were found to have significantly elevated plasma levels of plant sterols in the form of beta-sitosterol, campesterol, and stigmasterol. Sitosterolemia is characterized by tendon and tuberous xanthomas and by a strong propensity towards premature coronary atherosclerosis. Significant increases of plant sterols (phytosterols) are found in blood and various tissues. Arteries and xanthomas in patients with sitosterolemia contain increased amounts of these sterols, particularly sitosterol, stigmasterol, campesterol, and their 5-alpha derivatives. The disease causes a significant increase in morbidity and mortality for those affected. Coronary heart disease and its inherent health consequences are the primary causes of illness and premature death.

4. EMedicine - Sitosterolemia : Article By Robert D Steiner, MD sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease.Bhattacharyya and Connor first described this disease in 1974. sitosterolemia. http://www.emedicine.com/ped/topic2110.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Sitosterolemia Last Updated: October 31, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthor(s): Patricia Campbell, MD , Staff Physician, Department of Pediatrics, Doernbecher Children's Hospital Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Editor(s): Ian Krantz, MD

5. Sitosterolemia Resources On The Internet Search millions of published articles for news on sitosterolemia. The eLibrary newspaper and magazine archive contains http://www.healthcyclopedia.com/sitosterolemia.html

Home Health Conditions by Category ... Contact Us Sitosterolemia Health News Search millions of published articles for news on Sitosterolemia The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report Note: To access the full text of articles, sign up for a seven-day no-risk free trial subscription to eLibrary. Web Directory Web Links: Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. (September 1, 1998) The Web Directory section is adapted from the Open Directory Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

6. Sitosterolemia From Pediatrics / Genetics And Metabolic Disease sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease. Backgroundsitosterolemia is a rare inherited plant sterol storage disease. http://author.emedicine.com/ped/topic2110.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Sitosterolemia Synonyms, Key Words, and Related Terms: phytosterolemia, pseudohomozygous familial hypercholesterolemia Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthored by Patricia Campbell, MD , Staff Physician, Department of Pediatrics, Doernbecher Children's Hospital Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Edited by Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Robert Anthony Saul, MD

7. Sitosterolemia A striking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased intestinal http://www.lastenendo.sci.fi/luku92/921.html

12.1 Familiaalinen hyperkolesterolemia, FH-tauti M. Salo 16.8.96 Lastenendokrinologien syyskokous, Pirkkala LDL-reseptorimutaatio Kromosomi 19 AD homotsygootteja 1: 1 milj (Suomessa 3) heterotsygootteja 1: 500 (USA, UK, N, DK, J) (1:67 ja 1:100 E-Afrikan Ashk-juut ja afrikaan) Suomessa 10 000? Mutaatiot: yli 150 kuvattu Suomessa: 4 yleistä (75%) FH-Helsinki del ex 16-18 (Aalto-Setälä 1988) FH-North-Karelia del nt 925-931 (Koivisto 92) harvinaista (yht. 85%) FH-Oulu-1, FH-Oulu-2, FH-Jalasjärvi ym. 2 lievää (FH-Espoo ja -Keuruu) mutaatio vaikuttaa taudinkuvaan Kliininen kuva S-Kol heterotsyg 6 - 15 mmol/l homotsyg 16 - 26 mmol/l HDL-K Trigly normaali Ksantoomiat, ksantelasmat Ateroskleroosi, angio+ Sepelvaltimotauti Homotsygootti: vanhin elänyt 57v, muutama äiti synnyttänyt FH:n diagnoosi A. lapsen S-Kol 7.0, LDL-Kol 5.0 mmol/l ja S-Trigly N ja sekundaariset hyperlipidemiat poissuljettu sekä jompikumpi B. Yhdellä tai useammalla 1 sukulaisella FH Yhdellä tai useammalla 1 sukulaisella tyyppi IIa hyperlipidemia, ksantoomia ja / tai varhainen SVT

8. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. http://news.medscape.com/MedscapeWire/1998/09.98/medwire0901.scientists.html

9. Sitosterolemia - Evaluation, Treatment And Research At The National Heart, Lung The National Heart, Lung and Blood Institute is actively seeking patients withsitosterolemia to receive free evaluation and/or treatment in our clinical http://patientrecruitment.nhlbi.nih.gov/Sitosterolemia.aspx

Patient Recruitment Home Patient Recruitment - Sitosterolemia Research Studies Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235) Sitosterolemia Research Study Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235) If you have homozygous sitosterolemia, you are invited to participate in a study that will evaluate a new investigation drug that inhibits cholesterol absorption. Ezetimibe (SCH-58235) reduces plant sterol concentrations in patients with sitosterolemia with short term treatment. Ezetimibe was well tolerated in these patients. The long term safety and benefit is being evaluated in this one year study. Sitosterolemia should be suspected in children with hypercholesterolemia, tuberous and tendinous xanthomas, recurrent arthritis and an unusually good improvement in cholesterol levels due to diet and a bile acid resin binder. Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel, medical testing or the ezetimibe. For further information please contact our research coordinator (tel. 301-496-1500, e-mail:

10. Lipid Disorders - Evaluation, Treatment And Research At The National Heart, Lung sitosterolemia Research Study. sitosterolemia Research Study Treatmentwith Ezetimibe (SCH-58235). If you have homozygous sitosterolemia http://patientrecruitment.nhlbi.nih.gov/LipidDisorders.aspx

Patient Recruitment Home Patient Recruitment - Lipid Disorders Research Studies Apolipoprotein Deficiency Research Study - Diagnosis and Followup Protocol Hypoalphalipoproteinemia Research Study - Diagnosis and Followup Protocol Total Cholesterol <50 mg/dL Research Study - Diagnosis and Followup Protocol ... Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235) Apolipoprotein Deficiency Research Study Apolipoprotein Deficiency Research Study - Diagnosis and Followup Protocol If you have a mutation in a plasma apolipoprotein (the protein portion of a lipoprotein), you are invited to participate in a study that will evaluate the development and follow the natural history of atherosclerosis in your disorder. Many apolipoprotein mutations have been described including apolipoprotein A-I (apoA-I), apolipoprotein A-II (apoA-II), apolipoprotein B (apoB), apolipoprotein C-I (apoC-I), apolipoprotein C-II (apoC-II), apolipoprotein C-III (apoC-III) and apolipoprotein E (apoE). A variety of clinical and research techniques will be used to assess and follow the development of atherosclerosis. Recommendations for treatments will be provided based upon these findings. Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel or medical testing.

11. DIRECTORY.TERADEX.COM - Health/Fitness/Diseases/Nutrition And Metabolism Disorde sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. http://directory.teradex.com/Health_Fitness/Diseases/Nutrition_and_Metabolism_Di

preloadImages('as_free_x-mail_s','as_anonymous','as_ad-space'); Add your Web Site Add Search to your Site Search for: Search through: Entire site Sitosterolemia DIRECTORY Health/Fitness Diseases Nutrition and Metabolism Disorders ... Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Submit Premium Listing! $10 for two years Sign Up User Name: Password: Edit in Real Time, Banner Placement Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor This site is presented in modified Open Directory form E-Mail: webmaster@teradex.com Aaex Corp.

12. Smith-Lemli-Opitz Syndrome From Pediatrics / Genetics And Metabolic Disease A Trisomy 18 B SmithLemli-Opitz syndrome (SLOS) C Down syndrome D Phenylketonuria(PKU) E sitosterolemia The correct answer is B These are classic http://author.emedicine.com/PED/topic2117.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Smith-Lemli-Opitz Syndrome Synonyms, Key Words, and Related Terms: RSH syndrome, SLOS, multiple congenital anomalies/mental retardation syndrome, MCA/MR Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 12 Authored by Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthored by Laura S Martin, MD , Director of Medical Genetics, Assistant Professor, Department of Pediatrics, Madigan Army Medical Center and University of Washington; Roderick F Hume, MD , Chief, Department of Clinical Investigation, Associate Professor, Department of Obstetrics and Gynecology, Madigan Army Medical Center Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Edited by Elaine H Zackai, MD

13. Sitosterolemia : Meddie Health Search Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An articleabout a study of 10 families with sitosterolemia, a rare, recessively http://www.meddie.com/search/Health/Conditions_and_Diseases/Nutrition_and_Metabo

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Cholesterol and Other Fats : Sitosterolemia ITEMS: LINKS: Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. (Rating: 0.00 Votes: 0) Rate It Sitosterolemia A press release with a brief explanation of this disease. (Rating: 0.00 Votes: 0) Rate It Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

14. Human ABC-Transporters mutation. GDB. GenAtlas. Unigene. HomoloGene. 605459. sitosterolemia. NM 022436 http://www.med.rug.nl/mdl/humanabc.htm

Human A TP- B inding C assette Transporters The 'Human ATP-Binding Cassette Tranporters' page has moved! You will be redirected to the new location of the page automatically 5 seconds after load. If this redirect fails, you may go to the new page manually Last update: January 10th, 2003 Comments to: Michael Müller

15. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details SCH58235 (Ezetimibe) to Treat Homozygous sitosterolemia. Patients with homozygoussitosterolemia 10 years of age and older may be eligible for this study. http://www.clinicaltrials.gov/ct/gui/show/NCT00045812?order=14

16. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Genetic Study of sitosterolemia. Purpose OBJECTIVES I. Identify thegenetic defect and fine map the gene that causes sitosterolemia. http://www.clinicaltrials.gov/ct/gui/show/NCT00004481?order=49

17. Searchalot Directory For Sitosterolemia Related Web Sites. sitosterolemia A press release with a brief explanationof this disease. sitosterolemia - An article about this http://www.searchalot.com/Top/Health/ConditionsandDiseases/NutritionandMetabolis

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Sitosterolemia Related Web Sites Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo!

18. 1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met Conditions and Diseases Nutrition and Metabolism Disorders Cholesteroland Other Fats sitosterolemia . Uncover resources and http://www.1uphealth.com/links/cholesterol-and-other-fats-sitosterolemia.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Cholesterol and Other Fats : Sitosterolemia Sites Sitosterolemia A press release with a brief explanation of this disease. Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. (September 1, 1998) Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

19. Entry Page Tian,H.; Graf,GA; Yu,L.; Grishin,NV; Schultz,J.; Kwiterovich,P.; Shan,B.; Barnes,R.;Hobbs,HH; Accumulation of dietary cholesterol in sitosterolemia caused by http://srs.wehi.edu.au/srs6bin/cgi-bin/wgetz?-id 1nof11KZa5v -e [SWISSNEW:'ABG8_

20. Entry Page Bruckert,E.; Pandya,A.; Brewer,HB Jr.; Salen,G.; Dean,M.; Srivastava,AK; Patel,SB;Two genes that map to the STSL locus cause sitosterolemia genomic structure http://srs.wehi.edu.au/srs6bin/cgi-bin/wgetz?-id 4looS1KZafB -e [SWISSNEW:'ABG8_

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