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Fabrys Disease: more books (19)

Lipidoses: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Tish, A.M. Davidson, Altha Edgren, 2006
Journal of Genetic Counseling February 2008 (An Interdisciplinary Journal Focused on the Advancement of Knowledge about Genetic Counseling, Volume 17, Number 1) by Inc. National Society of Genetic Counselors, 2008
Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01
Lipidoses: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Altha Edgren, 2006
100 Questions&Answers About Hepatitis C: A Lahey Clinic Guide (100 Questions & Answers about) by Stephen C. Fabry, R. Anand Narasimhan, 2006-10-04

lists with details

Dictionary Definition Of FABRY'S DISEASE
Dictionary definition of FABRY S disease. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E F G H I
http://www.dictionarybarn.com/FABRYS-DISEASE.php
NINDS Fabry's Disease Information Page
Fabry s disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). More about Fabry s disease,
http://www.ninds.nih.gov/health_and_medical/disorders/fabrys_doc.htm

Extractions: The pain in the hands and feet usually responds to medications such as Tegretol (carbamazepine) and dilantin. Gastrointestinal hyperactivity may be treated with metoclopramide or Lipisorb® (a nutritional supplement). Recent experiments indicate that enzyme replacement is effective therapy for patients with this disorder. What is the prognosis?
Enzyme Therapy Shown Effective And Safe For Fabry Disease
A June 2001 press release on enzyme replacement therapy for Fabry s disease, from the National Institute of Neurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/news_and_events/pressrelease_fabry_060501.htm?type=arch
Fabry Disease Information, Causes And Treatment
Fabry disease is one of several genetically inherited diseases called lysosomal storage disorders. It causes a wide range of signs
http://www.fabrycommunity.com/

Extractions: Genzyme Corporate Research Search Genzyme Websites Fabry disease is one of several genetically inherited diseases called lysosomal storage disorders. It causes a wide range of signs and symptoms that can range from mild to severe and life threatening. This site connects the Fabry community to information about the causes, diagnosis and management of Fabry disease. The site also provides support to patients, families, and healthcare providers. Learn the facts about Fabry disease, including the hereditary nature, diagnosis, and management of the disease. Gain insight into how others are living with Fabry, and access links to other sites that will help you connect with the larger Fabry community.
Fabry Disease Information For Patients And Their Families
Fabry disease is a rare hereditary disorder caused by a faulty gene in the body. It affects Fabry disease Overview. Fabry disease
http://www.fabrycommunity.com/patient/about/fc_p_pt_fabry-disease.asp

Extractions: Fabry Disease Overview Fabry disease is a rare hereditary disorder caused by a faulty gene in the body. It affects more males than females: It is estimated that 1 in 40,000 males has Fabry disease, whereas the estimated prevalence in the general population is 1 in 117,000 people. Hereditary (or genetic) disorders are those that are passed down from parents to their children through the genes. One or both parents may carry an abnormal gene that, when passed along to their children, can result in disease. Since the Fabry disease gene is located on the X chromosome, the disease primarily affects males (although some females can also experience symptoms). For more information on inheritance of genetic diseases, see the How Fabry is Inherited page of this website. When people inherit the abnormal gene that causes Fabry disease, their bodies cannot produce enough of an important enzyme called alpha-galactosidase A (pronounced al-fa-ga-lak-toe-si-daze a) or alpha-GAL. Alpha-GAL is needed to clear certain cells in the body of a fatty substance called globotriaosylceramide (pronounced glow-bow-tri-oh-syl-ser-a-mide) or GL-3.
Department Of Human Genetics - Mount Sinai School Of Medicine
Fabry disease Facts for Patients and their Families. Back to top. What Is the Nature of the Metabolic Defect in Fabry disease? The
http://www.mssm.edu/genetics/fabry/

Extractions: The purpose of this text is to provide patients and their families with information about the symptoms, diagnosis, management, and enzyme replacement therapy for Fabry disease. In 1898, two dermatologists, Johann Fabry in Dortmund, Germany and William Anderson in London, England, independently described the first patients with the disorder now known as Fabry disease. Forty years later, it was recognized that the disease resulted from abnormal deposits of a particular fatty substance (known as globotriaosylceramide) in blood vessel walls throughout the body. In the 1960's, the primary defect was identified as the inherited deficiency of the enzyme, a -galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide. The gene for this enzyme was isolated and characterized in 1986 at Mount Sinai, permitting improved diagnosis, especially of female carriers, and the capability to produce large amounts of the normal enzyme for trials of enzyme replacement therapy. Back to top What Is the Nature of the Metabolic Defect in Fabry Disease?
Mps Society's Fabry Disease Information Site
MPS Main Site Home. Fabry Mini Site - Home. An Introduction to Fabry disease. Case Studies. Treatment Centres. The Symptoms of Fabry disease. The Genetics of Fabry disease. Current and Future Therapies. The Fabry Registry. Contacts Welcome to the MPS Society's Fabry disease Information Site
http://www.fabry.org.uk/
Department Of Human Genetics - Mount Sinai School Of Medicine
Fabry disease Facts for Patients and Families Free Diagnostic Studies Research Update Fabry Mailing List Building Your Family Tree Fabry disease Support Group
http://www.mssm.edu/genetics/fabry/references.shtml

Extractions: Index of Fabry Disease References There is a wealth of scientific and medical information concerning Fabry Disease. The references listed below, which are representative of the literature, can be found in your local medical library. Historical References Reviews Clinical Publications (latest) Clinical Publications (1981-1990) ... mssm home
Fabry Support Information Group
Fabry Support Information Group. About FSIG. What is Fabry disease. Join FSIG, Request Information. Donations. Additional Online Information.
http://www.fabry.org/
Response - Fabry Disease
Responding to Gneral Practioner, Date 05/19/2004 Time 0605 PM. Subject Fabry disease. Body Call Children Hospital in Chicago
http://www.fabry.org/FSIG.nsf/0/ecca9f14e1c7286486256e99007edbd6?OpenDocument
EMedicine - Fabry Disease : Article By Melissa Wasserstein, MD
Fabry disease Fabry disease is an X-linked inborn error of glycosphingolipid metabolism caused by a deficiency of the lysosomal hydrolase a-galactosidase A (a
http://www.emedicine.com/ped/topic2888.htm

Extractions: (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 Last Updated: April 7, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: Anderson-Fabry disease, Fabry's disease, a -galactosidase A deficiency, alpha-galactosidase A deficiency, angiokeratoma corporis diffusum universale, hereditary dystopic lipidosis, GLA deficiency, ceramide trihexosidase deficiency, error in metabolism, error of glycosphingolipid metabolism AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Workup ... Bibliography Author: Melissa Wasserstein, MD , Assistant Professor, Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine Coauthor(s): Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine; Robert J Desnick, MD, PhD , Professor, Chair, Department of Human Genetics, Mount Sinai School of Medicine Melissa Wasserstein, MD, is a member of the following medical societies:
TKT Patient Information Fabry Disease
Fabry disease It is important for your physician, family, and peers to understand Fabry disease. Fabry disease. Introduction and Biochemistry.
http://www.tktx.com/patient/fabry.htm

Extractions: or Click here for additional information Please note that Replagal has received approval in the European Union, Australia, Canada, Iceland, Israel, New Zealand, Norway, Romania, and Switzerland. In 2004, TKT made the decision to end its efforts for US approval of Replagal, where orphan drug exclusivity excludes it from the U.S. market. The company remains committed to expanding the Replagal franchise in markets where it is approved. Fabry disease is a rare lysosomal storage disorder caused by deficient activity of the enzyme, alpha-galactosidase A ( a -gal). Without a -gal, the lipid ceramidetrihexoside (CTH) also referred to as globotriaosylceramide (Gb ), accumulates in lysosomes throughout the body and impairs the function of several major organs including the kidney and heart. Fabry disease occurs in all ethnic groups and is an X-linked recessive genetic trait affecting primarily males, although females may be severely affected by the disease. Due to its rarity and vast array of symptoms, diagnosis is often difficult and usually occurs as late as the second decade of life. Commonly, patients are misdiagnosed and often visit a variety of medical specialists.
UAB Health System | Enzyme Replacement Therapy For Fabry's Disease
Enzyme Replacement Therapy For Fabry s disease. Enzyme Replacement Therapy for Fabry s disease UAB Evaluates Possible Lifesaving Treatment Protocol.
http://www.health.uab.edu/show.asp?durki=54295
HONselect - Fabry Disease
English Fabry disease, Anderson-Fabry disease - Angiokeratoma Corporis Diffusum - Fabry s disease - Anderson Fabry disease - disease, Anderson-Fabry - disease
http://www.hon.ch/HONselect/RareDiseases/C18.452.648.556.641.803.300.html
Fabry Disease In Genetic Counseling Practice: Recommendations Of The National So
GUIDELINE TITLE. Fabry disease in genetic counseling practice recommendations of the National Society of Genetic Counselors. BIBLIOGRAPHIC SOURCE(S).
http://www.guideline.gov/summary/summary.aspx?doc_id=3274
Fabry Disease Usually Occurs During Childhood Or In Early
Fabry disease usually occurs during childhood or in early adolescence although clinical onset may be delayed until the second or third decade.
http://www.mpssociety.co.uk/fabry/symptoms.htm

Extractions: Fabry Disease usually occurs during childhood or in early adolescence although clinical onset may be delayed until the second or third decade. In childhood, the diagnosis is usually suggested before onset by: Recurrent bouts of severe pain or burning sensation in the hands and feet. Pain may be brought on by exercise, fever, fatigue, stress, or exposure to temperature changes. This pain may not respond to common pain medication and may be misdiagnosed as rheumatic fever or erythromelagia Cutaneous lesions known as angiokeratomas characterised by reddish-purple maculopapular skin lesions usually appearing initially between the ages of 5 and 10 years. Angiokeratomas are most often seen on the thigh, buttocks, umbilicus, lower abdomen, scotum and penis and tend toward bilateral symmetry. The appearance of these skin lesions may lead to an early diagnosis and is often called a 'bathing trunk' rash. Hypohidrosis an absence of sweating or more commonly , decreased sweating. Affected children and adults may be intolerant of heat to the point of avoiding the outdoors in warm weather and may suffer attacks of nausea, dyspnea, lightheaded-ness, headache and even collapse with loss of consciousness. Opthalmological abnormalities often presenting as corneal opacities 9 haziness) are usually present though asymptomatic and only seen through a slit lamp examination. Fortunately this haziness doesnot affect vision.
Fabry's Disease - Health And Medical Information: Diseases And Conditions, Medic
MedicineNet Home diseases Conditions AZ List Fabry s disease. Advanced Search. What is Fabry s disease? Fabry s disease is a
http://www.medicinenet.com/fabrys_disease/article.htm

Extractions: Printer-Friendly Format Add to Favorites Email to a Friend ... Next page What is Fabry's disease? Fabry's disease is a genetic defect in which the enzyme alpha- galactosidase A is deficient. This enzyme is important in the metabolism of a certain type of molecule in the body known as glycosphingolipids. Without this enzyme, glycosphingolipid molecules accumulate in certain tissues because they cannot be broken down into simpler molecules for excretion. The accumulation of glycosphingolipids occurs in almost all organs but particularly in nerve tissue, heart, and kidneys. What are the symptoms of Fabry's disease? Symptoms of this condition depend on the level of enzyme deficiency. Males are usually the most severely affected and, in patients with complete enzyme deficiency, symptoms develop in childhood or adolescence. Pain and abnormal feelings occur in the extremities. Red, raised lesions known as angiokeratomas occur on the skin and within the mouth. The ability to sweat is decreased. The cornea and lens of the eye become clouded. Later, kidney failure occurs which secondarily causes hypertension. Heart function can also be impaired. Patients with partial enzyme activity may not show any symptoms or they may begin late in life. The impaired heart function is typically the primary problem.
Cardiac Transplantation For Fabrys Disease
Translate this page CASE REPORTS. January 1998, Volume 14 Number 1 81-84. Cardiac transplantation for Fabrys disease. Fabrys disease is a rare cause of cardiomyopathy.
http://webserver.pulsus.com/CARDIOL/14_01/cant_ed.htm

Extractions: Cardiac transplantation for Fabrys disease WJ Cantor, P Daly, M Iwanochko, JTR Clarke, RJ Cusimano, J Butany Key Words: Fabrys disease, Heart transplantation, Pathology Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail Pdf Format - Registered users can view the complete article in Pdf format. REGISTERED USERS LOGIN REGISTER NOW! Transplantation cardiaque dans la maladie de Fabry RÉSUMÉ : Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail
Fabry's Disease -- Encyclopædia Britannica
Fabry s disease Encyclopædia Britannica Article. MLA style Fabry s disease. Encyclopædia Britannica. 2004. Encyclopædia Britannica Premium Service.
http://www.britannica.com/eb/article?eu=34128
About Fabry Disease
Fabry disease is a hereditary disorder caused by a faulty gene in the body. Due to this error About Fabry disease. Fabry disease is a
http://www.genzyme.co.uk/thera/fz/uk_p_tp_thera-fz.asp

Extractions: About Fabry Disease Fabry disease is a hereditary disorder caused by a faulty gene in the body. Due to this error in the body's genetic makeup, an essential enzyme (known as alpha-galactosidase, or alpha-GAL) is missing or present in a reduced amount. Without this enzyme, certain proteins (primarily globotriaosylceramide or GL-3) are not removed from the body, and instead stay in the in the walls of blood cells. The result is a build-up of the GL-3. It is this build-up, or storage, that causes most of the problems in Fabry disease. As GL-3 builds up in the walls of blood vessels over time, it does increasing damage to the body. Major systems like cardiovascular, cerebrovascular and renal become affected and can stop functioning properly. That is why it is important to recognise the symptoms of Fabry disease and to be tested by your doctor. If Fabry disease is diagnosed early, symptom management may be more effective and may lead to an improved quality of life.

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