81. Fabry Disease Subject fabry disease Forum The Urology Forum Topic Area Posted by alex magana on March 02, 1998 at 154350 What is fabry disease. What can it do. http://www.medhelp.org/forums/urology/archive/200.html

Questions in The Urology Forum are currently being answered by by Kevin Pho, M.D., who is board certified in Internal Medicine. Dr. Pho has a private practice in Internal Medicine and is also affiliated with an academic medical center where he works in emergency and inpatient venues. Subject: fabry disease Forum: The Urology Forum Topic Area: Posted by alex magana on March 02, 1998 at 15:43:50: What is fabry disease. What can it do. The Urology Forum Urology Forum Archives Med Help Home Information contained within this forum is intended solely for general educational purposes and is not intended nor implied to be a substitute for professional medical advice relative to your specific medical condition or question. Always seek the advice of your physician or other health provider for any questions you may have regarding your medical condition. Only your physician can provide specific diagnoses and therapies. By using this site you agree to the following Terms and Conditions Med Help International

82. ABC30.com: Health Watch - Treating Fabry Disease print story email story last updated 1/6/2003. Treating Fabry disease. January 5. Symptoms of Fabry disease consist of abdominal pain, and vision problems. http://abclocal.go.com/kfsn/health/healthwatch/health_010503_fabry2.html

CM8ShowAd("TOP") abc30.com Quick Links Action News ABC 30 Listens Consumer Watch Health Watch Connecting With Kids Mr. Food News Team Bios Person of the Week Recalls Seen on ABC-30 Weather Sketchers 2003 Honored Scholars Children First Class Reunions Community Calendar ABC 30 Skycam ABC-30 Sierra Summit Cam ABC 30 Virtual Tour Automotive Horoscopes Lottery Sports Baseball Basketball Football Hockey Nascar Golf Soccer About Us Contact ABC-30 Job Listings Advertise on ABC-30 print story email story last updated: 1/6/2003 Treating Fabry Disease January 5 (Ivanhoe Newswire) Research Summary RARE BUT FATAL: Fabry disease is an uncommon genetic disorder of lipid metabolism characterized by a lack of the enzyme alpha-galactosidase A, or ceramidetrihexosidase. Insufficient levels or inactivity of the alpha-galactosidase A enzyme leads to the unusual buildup of a material composed of fatty substances and carbohydrates in several organs of the body, mainly blood vessels and the eyes. Symptoms of Fabry disease consist of abdominal pain, and vision problems. Eventually, Fabry disease, causes kidney failure, heart problems, and neurological abnormalities. The disease, is genetically transferred from generation to generation as an X-linked recessive trait. Though it affects only one in roughly 40,000 people, Fabry disease is a devastating affliction that is nearly always fatal. Patients are born missing an enzyme that is necessary for the breakdown of fatty deposits in the body's cells. Without the enzyme, called a-GAL, these fatty deposits build up, causing pain in the extremities, clogged blood vessels, and eventually, organ failure. Even with kidney transplants, most Fabry patients seldom live past their 50s.

83. Maladie De Fabry: Aspects Cliniques Et Perspectives Thérapeutiques (Fabry's Dis Translate this page thérapeutiques, Fabry’s disease clinical aspects and therapeutic perspectives. La Fabry’s disease is one of the lysosomal disorders. It is http://www.smw.ch/archive/2000/130-21-318-00.html

Barbey F, Lidove O, Droz D, Grünfeld JP Maladie de Fabry: aspects cliniques et perspectives thérapeutiques. Peer reviewed article Maladie de Fabry: aspects cliniques et perspectives thérapeutiques La maladie de Fabry fait partie des maladies lysosomales. Elle est due à un déficit héréditaire en a-galactosidase A, de transmission récessive liée à l X. Les hémizygotes développent en majorité une atteinte multisystémique sévère (forme classique), dominée par une insuffisance rénale inéxorable, et des lésions neurologiques et cardiaques évolutives. Cependant, certains sujets gardent une activité enzymatique suffisante et restent longtemps asymptomatiques (forme atypique); ils sont essentiellement atteints d une cardiomyopathie hypertrophique. Les femmes vectrices sont habituellement asymptomatiques; 15% d entre elles sont toutefois affectées d une atteinte sévère d un ou de plusieurs organes. Le diagnostic biochimique, histologique et moléculaire permet d

84. Entrez PubMed Click here to read Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. Moore DF, Altarescu G, Herscovitch http://www.biomedcentral.com/pubmed/12079501

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order BMC Neurol. 2002 Jun 18;2(1):4. Related Articles, Links Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. moored@ninds.nih.gov

85. Microcirculation In Fabry's Disease Microcirculation in Fabry s disease. Fabry s disease is caused by an inherited defect of alphagalactosidase A gene, which is located on the X-chromosome. http://www.research-projects.unizh.ch/med/unit41700/area306/p2913.htm

research project Microcirculation in Fabry's disease Fabry's disease is caused by an inherited defect of alpha-galactosidase A gene, which is located on the X-chromosome. The enzymatic defect leads to the progressive accumulation of globotriaosylceramide and related glycosphingolipids in vascular endothelial lysosomes of the kidneys, heart, skin, and brain leading to the main disease manifestations. Visible signs in the skin include teleangiectases or angiokeratomas as well as lymphedema. It is generally accepted that primary lymphedema is caused by a malformation of the lymph vascular system. The etiology of lymphedema in patients with Fabry's disease is unknown. We study the initial lymphatics by fluorescence microlymphography in patients with Fabry's disease and the effect of a new enzyme replacement therapy on lymphatic microvessels. Contacts Dr. med. B.R. Amann-Vesti (Project Leader) beatrice.amann@dim.usz.ch Last Update Responsible Project Leader: Dr. med. B.R. Amann-Vesti Professor or Research Area Leader: Prof. Dr. Renate Koppensteiner

86. Body What is Fabry disease? Fabry disease is a rare inherited disorder caused by a mutation in the agalactosidase gene. How is Fabry disease inherited? http://www.ahsc.arizona.edu/nephrology/fabry/fabryinfo.html

Fabry Information What is Fabry Disease? Fabry disease is a rare inherited disorder caused by a mutation in the a-galactosidase gene. This mutation prevents production of the a-galactosidase A enzyme, which is involved in the breakdown of a lipid called Globotriaosylceramide (Gb3). As a result, Gb3 accumulates in bodily tissues. Symptoms caused by this accumulation include intense pain crises, skin lesions, lymphoedema, fever, eye complications, renal failure, cardiac disease, and strokes. How is Fabry disease inherited? Typically, Fabry disease is passed on from mother to son. It is an X-linked recessive trait. This means that the Fabry gene is located on the X chromosome, and presentation of the disease requires a faulty Fabry gene from each parent. However, because males only have one X chromosome, which is contributed by the mother, only one faulty Fabry gene from the mother will cause Fabry in the son. Females that have one mutated gene and one normal gene are carriers. In other words, if the mother is a carrier and the father has no disease, there is a 50% chance that a son will have Fabry and a 50% chance that a daughter will be a carrier. If the father has Fabry Disease and the mother is not a carrier, then there is a 100% chance that a daughter will be a carrier and a 0% chance that the son will have Fabry.

87. Body Our Program. At the Southwestern Fabry Research Center, we have the following research programs related to Fabry disease Fabry disease http://www.ahsc.arizona.edu/nephrology/fabry/program.html

Our Program At the Southwestern Fabry Research Center, we have the following research programs related to Fabry disease: Fabry disease International Registry (FIRE): This is a worldwide registry study of Fabry disease. If you are Fabry disease patient or carrier, you can participate in this study. We will provide genotyping studies (genetic diagnosis), Fabry enzyme studies and genetic counseling for your family. We will follow your Fabry activity and kidney function every 6 months. There is no cost for you. Currently, we have 12 families who live in the Southwestern region registered in this study at our site. We envision that with the genetic information and clinical information, we will be able to further our understanding of Fabry disease. Fabry Disease Enzyme Replacement Therapy Clinical Trials: If you have Fabry disease, you may contact us to determine whether or not you are qualified for Enzyme Replacement Therapy Clinical Trials. Gene Therapy for Fabry Disease: Our laboratory is conducting experiments in order to develop gene therapy for Fabry disease. Genotyping study: Genotyping is important not only for patients who have Fabry disease, but also for their families. Particularly, the Fabry carrier status has been very difficult to identify without genotyping. We have seen a few females who were told or suspected that they were carriers. The genotyping studies proved that they were normal and their children would have no risk of Fabry disease. For patients who live outside the Southwestern area and wish to undergo a genotyping study, a physician referral is needed. Usually, 4 cc of blood sample will be adequate for genotyping. Prenatal diagnosis is also available.

88. GeneReviews: Fabry Disease Your browser does not support HTML frames so you must view Fabry disease in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/query?dz=fabry

89. Blackwell Synergy - Cookie Absent Misdiagnosis of Fabry disease importance of biochemical confirmation of clinical or pathological suspicion. Fabry s disease alphagalactosidase deficiency. http://www.blackwell-synergy.com/links/doi/10.1046/j.1365-2133.2004.05813.x/enha

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90. Blackwell Synergy - Cookie Absent NEPHROLOGY FORUM. Fabry disease Kidney involvement and enzyme replacement therapy. This instability possibly leads to the mild variant of Fabry disease. http://www.blackwell-synergy.com/links/doi/10.1111/j.1523-1755.2004.00440.x/abs/

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91. Fabry Disease Clickhere to download pdf file. http://www.napsnet.com/radio/006942.html

Click here to download pdf file

92. Genetics Associates Of NJ, P.C. Fabry disease. Fabry disease is a progressive disorder and complications include gastrointestinal and kidney problems, heart disease, and stroke. http://www.njgenetics.com/programs/lyso/fabry.html

Fabry Disease FABRY DISEASE is an inherited lysosomal storage disorder that results from deficiency of an enzyme called alpha-galactosidase A. This enzyme is necessary for certain cells to digest fatty substances. People who are missing this important enzyme accumulate fatty material within the cells of their blood vessels and tissues of the kidney, heart, skin, and brain. The signs and symptoms of Fabry disease include pain, impaired sweating, exercise intolerance, skin rashes (angiokeraotomas), and changes on the cornea of the eye. Many of these symptoms are also common to other diseases, which may lead to misdiagnosis. Fabry disease is a progressive disorder and complications include gastrointestinal and kidney problems, heart disease, and stroke. The genetic defect is inherited as an X-linked recessive trait, which means that males are more often affected than females. Virtually all males who inherit the Fabry gene will develop symptoms. Women who carry this gene are often asymptomatic but some may develop the serious manifestations of the disease. Enzyme replacement therapy was approved by the FDA in April 2003 and is now available for the treatment of patients with Fabry disease.

93. Ingenta: Article Summary -- Fabry Disease: Detection Of Undiagnosed Hemodialysis Fabry disease Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype Kidney International September 2003, vol. http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://bsc/

94. Science Blog - Enzyme Replacement Effective In Treatment Of 'Fabry' Disease the CedarsSinai Medical Center ENZYME REPLACEMENT THERAPY FOUND TO EFFECTIVELY TREAT PATIENTS WITH FABRY disease – AN INHERITED GENETIC DISORDER LOS ANGELES http://www.scienceblog.com/community/article-print-226.html

Enzyme replacement effective in treatment of 'Fabry' disease Date: Sunday, October 27, 2002 @ 2:03 PM PST Topic: Bio and Medicine A disorder in which the body fails to make a particular enzyme - leading to severe pain in the hands and feet, and eventual damage to internal organs - has been successfully treated for the first time in Los Angeles. From the Cedars-Sinai Medical Center ENZYME REPLACEMENT THERAPY FOUND TO EFFECTIVELY TREAT PATIENTS WITH FABRY DISEASE – AN INHERITED GENETIC DISORDER LOS ANGELES, CA (October 24, 2002) - Raul Hernandez was no stranger to sports activity, and was active in Little League by the time he was 10 years old. But one day while running a short race at school, Raul experienced an intense burning sensation in his feet that turned his world upside down. From that day forward, he would experience severe pain in his feet any time he engaged in physical activity or, strangely, when the weather was hot or it rained. The situation worsened when the pain spread to his hands. His doctors, however, were unable to find anything wrong with him, telling his parents that the pain was all in his mind. Seventeen years later, Raul was officially diagnosed with Fabry disease – a rare genetic disorder that causes severe pain in the hands and feet, eventually destroying vital organs in the body. Yet even after Raul was diagnosed, no therapy was available to treat the disease. It was not until two-and-a-half years ago that Raul learned that a clinical trial at Cedars-Sinai Medical Center was testing a new drug designed to replace the enzyme that he was missing. The next thing he knew, he was on a plane to Los Angeles from his hometown in Salinas, California to take part in the clinical trial. Since then, Raul commutes every two weeks to receive treatment. He says that he is once again exercising without pain and leads as normal life as anyone else.

95. Entrez PubMed Comment in Muscle Nerve. 2002 Nov;26(5)5956. Click here to read Physiological characterization of neuropathy in Fabry s disease. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

96. OMIM - FABRY DISEASE http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301500

97. Fabry Disease: TV Health Reports: UI Health Care Fabry disease. If you are having trouble viewing this multimedia, download the latest version of Quicktime. Fabry disease information. Tom Loew, MD. http://www.uihealthcare.com/reports/pediatrics/031012fabrydisease-tvmov.html

Health Reports home Health Reports archive TV Health Reports archive News by medical specialty ... VH patient information - UI Health Care's digital library Read this month's health-e-newsletter Send comments and questions to staff@uihealthcare.com University of Iowa TV Health Reports: Air Date: October 12, 2003 Fabry Disease If you are having trouble viewing this multimedia, download the latest version of Quicktime. For more information: View the Story Children's Hospital of Iowa Fabry disease information Tom Loew, M.D. ... Search Information for: Patients/Visitors Health Care Professionals Residents/Fellows Students ... We Welcome Your Comments and Questions Last modification date: Thu Oct 9 12:33:09 2003 URL: http://www.uihealthcare.com/reports/pediatrics/031012fabrydisease-tvmov.html

98. Disease Directory : Fabrazyme A Treatment For Fabry Disease diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Fabry s Fabrazyme A Treatment for Fabry disease. Directory Listing. http://www.diseasedirectory.net/detailed/7247.aspx

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Fabry's : Fabrazyme A Treatment for Fabry Disease Directory Listing Title: Fabrazyme A Treatment for Fabry Disease Description: This web site is intended for use by European physicians only. You must log-in to use this site. Date Added: 2/4/2004 1:24:24 PM URL: http://www.fabrazyme.com/

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100. Ocular Manifestations In Fabry Disease: A Survey Of 32 Hemizygous Male Patients Ocular manifestations in Fabry disease a survey of 32 hemizygous male patients. Christophe Orssaud 1 , Jean Louis Dufier 1, 2 and Dominique Paul Germain 3. http://www.szp.swets.nl/szp/journals/og243129.htm

Ophthalmic Genetics 2003, Vol.24, No.3, pp. 129-139 Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients Christophe Orssaud , Jean Louis Dufier and Dominique Paul Germain Hopital Européen Georges Pompidou, Department of Ophthalmology, Paris, France Hopital Européen Georges Pompidou, Department of Genetics, Paris, France Hopital Necker-Enfants Malades, Department of Ophthalmology, Paris, France Keywords: Cornea verticillata , Fabry disease , haze , LOCS III , neurological complications , visual field defect .

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