41. Entrez PubMed Gaucher disease/diagnosis* Gaucher disease/pathology Glucosylceramidase/deficiency Human Inclusion Bodies/pathology Lysosomes/pathology Microscopy, Electron http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

42. Gauchers Association + provide information about Gaucher disease to keep families and medical advisers up to Gaucher disease is an inherited, enzyme deficiency, disorder. http://www.guide-information.org.uk/guide/search_index_detail.lasso?RecID=G7185

43. Gaucher Disease Gaucher disease Information for patients, relatives, doctors and researchers from an independent charity. http://www.gaucher.org.uk/

GAUCHER DISEASE Gaucher disease is an inherited, enzyme deficiency, disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age. These Gaucher symptons may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver may also occur in Gaucher disease as well as bone pain, degeneration and fractures. The most common form of Gaucher disease (Type 1) affects 1 in 100,000 of the general population although it is estimated that not all those who have Gaucher disease will show symptoms. In the rarer Type 2 and Type 3 Gaucher disease, neurological problems will occur. This site contains over 200 pages of information about Gaucher disease and its treatment. Gaucher Disease Contents Page Some articles are also available in German and Italian. References to them are made in the English Contents page. The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gaucher disease. Its members are mainly in the UK and Ireland. Gauchers Association is registered as a charity in the United Kingdom. Number 1095657.

44. Gaucher Disease Gaucher disease Information for patients, relatives, doctors and researchers from an independent charity. http://www.gaucher.org.uk/contents.htm

GAUCHER DISEASE There are 200 different pages at this Web Site for the use of patients with Gaucher's Disease and their doctors. Most patients have Type 1 disease. But if you are looking for information on Type 2 or Type 3 we now have a special home page for Neuronopathic Gaucher Disease . However Type 3 patients should also read information on the main pages which is equally applicable to them. If you want to let us have your comments and suggestions send us a message Opinions expressed here are not necessarily those of the Gauchers Association All the pages on this site are also available in Spanish . Some pages have also been translated into German and Italian and this is shown in the contents below. We are also starting to translate the site into Russian . This site looks best if viewed with Internet Explorer 5 or 6 If you need an understandable but comprehensive introduction to the subject read Living with Gaucher Disease first. This is also available in Italian and Bulgarian as well as English Spanish and Russian If you can't find what you want, try using the

45. The NTSAD Diseases Family: Gaucher Disease An in depth look at this disease and its causes, the different types, symptoms and treatment. http://www.ntsad.org/pages/gaucher.htm

Gaucher Disease IN 1882, PHILLIPE GAUCHER, A French physician, described the clinical disorder that now bears his name. Since his original description, many investigators have contributed to our understanding of Gaucher Disease. In the early 1900's, American physicians were the first to recognize its familial transmission and to characterize further the pathology of the disease. Although early investigations suggested that the disease was due to a metabolic disorder, it was not until 1965 that the specific metabolic defect, a deficiency in the enzyme glucocerebrosidase, was identified. We now recognize that the disease has three subtypes: Type I, II and III. A ll three types of Gaucher Disease are inherited storage diseases, and all result from the deficiency of an enzyme called glucocerebrosidase, which is necessary for the breakdown of a particular fatty substance, glucocerebroside. This fatty substance is normally present in very small amounts in all body cells, but in patients with Gaucher Disease, glucocerebroside is not broken down as it should be and becomes abnormally stored, primarily in unique cells called Gaucher cells. T he major disease manifestations are due to the progressive storage of glucocerebroside in Gaucher cells in the bone marrow, spleen and liver. Gaucher cells in the bone marrow can cause bone and joint pain, fractures and other orthopedic problems. Accumulation of Gaucher cells in the spleen and liver causes enlargement of these organs as well as blood abnormalities such as anemia, easy bruising and impaired blood clotting. In a small number of persons with Gaucher Disease, glucocerebroside also accumulates in the central nervous system, leading to neurological damage.

46. Gaucher Disease - Genetics Home Reference Where can I find additional information about Gaucher disease? What if I still have specific questions about Gaucher disease? http://ghr.nlm.nih.gov/condition=gaucherdisease

Home What's New Browse Handbook ... Search Gaucher disease Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Gaucher disease On this page: What is Gaucher disease? How common is Gaucher disease? ... help with understanding Gaucher disease? What is Gaucher disease? Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Genetic changes are related to the following types of Gaucher disease. Gaucher disease, type 1 Gaucher disease, type 2 Gaucher disease, type 3 Gaucher-like disease The signs and symptoms of Gaucher disease vary widely among affected individuals. The major features of this disorder include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), and bone disease. Gaucher disease can also affect the heart and lungs. The subtypes of Gaucher disease are grouped by their signs and symptoms. Type 1 is called non-neuronopathic Gaucher disease because the nervous system is usually not affected. The features of this disorder range from mild to severe and may appear early in life or in adulthood.

47. Gaucher Disease Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase http://my.webmd.com/hw/health_guide_atoz/nord12.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Gaucher Disease Important It is possible that the main title of the report Gaucher Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Sphingolipidosis 1 Disorder Subdivisions Type I Gaucher Disease Type II Gaucher Disease Type III Gaucher Disease Norrbottnian Gaucher Disease General Discussion Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain fats, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder. Resources Vaincre Les Maladies Lysosomales 9 Place du 19 Mars 1962

48. BUBL LINK: Gaucher Disease Addenbrooke s Gaucher s disease Service An advisory service for patients and Resource type article; Living with Gaucher disease A guide for patients, http://bubl.ac.uk/link/g/gaucherdisease.htm

BUBL LINK Catalogue of Internet Resources Home Search Subject Menus Countries ... Z Gaucher disease Titles Descriptions Addenbrooke's Gaucher's Disease Service Gaucher Disease Gauchers Association Laboratory Diagnosis of and Genetic Counseling for Gaucher Disease ... National Tay-Sachs and Allied Diseases Association: Gaucher Disease Comments: bubl@bubl.ac.uk Addenbrooke's Gaucher's Disease Service An advisory service for patients and families with Gaucher's disease. The service includes full clinical assessment of Gaucher's patients, advice on general medical and specialist needs e.g. pregnancy, surgical procedures, and patient review. Author: Addenbrooke's Hospital Subjects: gaucher disease DeweyClass: Resource type: documents Gaucher Disease Information about Gaucher disease, a lipid-storage disorder. Includes details of symptoms, prevalence, transmission, and therapy. Author: National Gaucher Foundation Subjects: gaucher disease DeweyClass: Resource type: documents Gauchers Association Information and support for doctors and patients with Gaucher disease (an inherited, enzyme deficiency disorder). Includes news, articles, and a list of regional associations. Author: Gauchers Association Subjects: gaucher disease DeweyClass: Resource type: documents, news

49. BUBL LINK Catalogue Of Internet Resources Laboratory Diagnosis of and Genetic Counseling for Gaucher disease Living with Gaucher disease National TaySachs and Allied diseases Association http://bubl.ac.uk/link/linkbrowse.cfm?menuid=8626

50. Gaucher Disease / Family Village Library The mission of the NGF is to find a cure for Gaucher disease by funding vital research programs, Gaucher disease What every family should know http://www.familyvillage.wisc.edu/lib_gauc.htm

Gaucher Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Gaucher Disease" Who to Contact National Gaucher Foundation 5410 Edson Lane, Suite 260 Rockville, MD 20852-3130 Toll-free: 800-428-2437 Phone: 301-816-1515 Fax: 301-816-1516 E-mail: ngf@gaucherdisease.org Web: http://www.gaucherdisease.org/ The National Gaucher Foundation (NGF) was established in 1984 as a non-profit, tax exempt organization dedicated to supporting and promoting research into the causes of, and a cure for Gaucher Disease. The mission of the NGF is to find a cure for Gaucher Disease by funding vital research programs, to meet the ever- increasing needs of patients and families, as well as to promote community/physician awareness and educational programs. The NGF offers a variety of services and programs including regional chapter meetings, patient support groups, international conferences, as well as the CARE Program and the Care+Plus Program which provide critical financial assistance to individuals with Gaucher Disease. The NGF also publishes a quarterly newsletter featuring informative columns about exercise, medical questions, personal stories and research updates. There is a $35 membership fee which entitles members to a 12 month subscription to the Gaucher Disease Newsletter, discounts on conferences and seminar registrations, and all NGF publications and materials. The NGF has funded millions of dollars in research dealing with various enzyme replacement therapies, alternative treatments and gene therapy. Currently, the NGF is funding ground-breaking research on the gene replacement therapy which would ultimately cure Gaucher Disease. Success in this research would lead the way to finding cures for hundreds of genetic disorders.

51. Gaucher Disease Links to information and resources for Gaucher disease, a storage disorder. http://rarediseases.about.com/cs/gaucherdisease/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Gaucher disease Guide picks A hereditary disorder of glucocerebroside metabolism. Gauchers Association UK Provides news, links, email list and chat, and physician list. Living With Gaucher Disease A comprehensive online brochure from the Gaucher Disease Treatment Program at Massachusetts General Hospital in Boston. Lysosomal Diseases Australia Newsletter News and information about storage diseases. Requires Adobe Acrobat Reader for PDF files. Lysosomal Storage Diseases Support Group This group, based in New Zealand, provides information, newsletter, latest research, and links. National Gaucher Foundation Provides information, resources, and links. National Tay-Sachs and Allied Diseases Association Gives a disease profile, offers resources, services, and a reading list.

52. Gaucher Disease Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful http://www.bchealthguide.org/kbase/nord/nord12.htm

var hwPrint=1;var hwDocHWID="nord12";var hwDocTitle="Gaucher Disease";var hwRank="1";var hwSectionHWID="nord12-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Gaucher Disease Important It is possible that the main title of the report Gaucher Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Sphingolipidosis 1 Disorder Subdivisions Type I Gaucher Disease Type II Gaucher Disease Type III Gaucher Disease Norrbottnian Gaucher Disease General Discussion Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain fats, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder. Resources Vaincre Les Maladies Lysosomales 9 Place du 19 Mars 1962

53. Gaucher Disease,Infantile Gaucher Disease,Acute Cerebral Gaucher Gaucher disease,Infantile Gaucher disease,Acute Cerebral Gaucher disease,Acid Betaglucosidase Deficiency,Cerebroside Lipidosis,Cerebrosidosis,Familial http://www.icomm.ca/geneinfo/gaucher.htm

54. Gaucher Disease - Swedish Medical Center, Seattle, Washington Gaucher disease Swedish Medical Center, Seattle, Washington. http://www.swedish.org/14402.cfm

PDF Version Search Send-to-Friend Health Library Home ... Conditions InBrief Gaucher Disease Pronounced: go-shay disease by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Definition Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease: Type I “ the most common type. It is found widely in people of Ashkenazi Jewish descent. Type II “ very rare, but rapidly progressive form of Gaucher disease. Type III “ very rare form. Most cases have been found in Sweden, Scandinavia, and Japan. Causes Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Instead of degrading naturally, glucocerebroside builds up in the spleen, liver, lungs, and bone marrow. In rare cases, it may also accumulate in the brain. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. The primary risk factor for Gaucher disease is having family members with the disease. Symptoms The three types of Gaucher disease vary in the onset and severity of symptoms. In general, the later the onset of symptoms, the less likely that symptoms will be severe.

55. Gaucher Disease, Cincinnati Children's Hospital Medical Center Cincinnati Children s Hospital Medical Center discusses types, symptoms and treatments for Gaucher disease. http://www.cincinnatichildrens.org/health/info/genetics/diagnose/gaucher.htm

Home Contact Us Site Map Go to Advanced Search ... Conditions and Diagnoses Gaucher Disease Infantile-onset Pompe Disease Late-onset Pompe Disease Mucopolysaccharidosis Type I (MPS I) Wolman Disease ... Overview Conditions and Diagnoses Gaucher Disease Related Services Lysosomal Disease Center Human Genetics Gaucher disease is also known as: Glucocerebrosidase deficiency Acid beta-glucosidase deficiency Glucosylceramidase deficiency Are there different types of Gaucher disease? How do the types of Gaucher disease differ? Non-neuronopathic Gaucher disease (Gaucher disease Type 1) Non-neuronopathic Gaucher disease (Gaucher disease Type 1) describes Gaucher disease that does not involve the brain or central nervous system. Symptoms can begin in infancy, childhood, or adulthood. Symptoms may be so mild that an individual may not realize they have the disease. Others have more significant disease complications. Neuronopathic Gaucher disease (Gaucher disease Types 2 and 3) Neuronopathic Gaucher disease (Gaucher disease Types 2 and 3) include the types of Gaucher disease that affect the body and brain. Type 2 disease (acute) usually begins early in infancy, progresses quickly, and results in death by 2-3 years of age. Type 3 disease (chronic) usually causes symptoms in later infancy or childhood and has a slower progression. Perinatal lethal Gaucher disease (type 2) causes death before or shortly after birth. The fetus may show unusual skin changes, swelling and extra fluid.

56. Gaucher Disease, Cincinnati Children's Hospital Medical Center Cincinnati Children s Hospital Medical Center discusses types, symptoms and treatments for Gaucher disease. http://www.cincinnatichildrens.org/health/info/genetics/diagnose/gaucher.htm?vie

57. Gaucher Disease Gaucher disease is a rare, inherited disease that causes the abnormal storage of Type II – very rare, but rapidly progressive form of Gaucher disease. http://healthgate.partners.org/browsing/browseContent.asp?fileName=23624.xml&tit

58. Listing By Alphabetical Subject Heading: Metabolic Diseases Their Web site provides comprehensive information about Gaucher disease (which is an Notes for physicians on Gaucher disease covering diagnosis, http://omni.ac.uk/browse/subject-listing/WD200.html

low graphics up Metabolic diseases Association for Glycogen Storage Disease (UK) The Association for Glycogen Storage Disease (UK) is a UK registered charity that aims to provide support and help for families affected by Glycogen Storage Disease (GSD). Information is provided on the national services provided by the Association and their annual conference and AGM. Publications include full-text workshop reports and information on general symptoms, current treatment and long-term outcome for the most commonly diagnosed glycogen storage diseases. Organizations, Nonprofit Great Britain Glycogen Storage Disease Charities ... AACE/ACE position statement on the prevention, diagnosis and treatment of obesity This document provides physicians with guidance on the ways in which obesity can be treated and the procedures for selecting patients for these treatments. It also defines obesity (in terms of the body mass index) and has large sections on etiology and pathogenesis and associated health risks. This guidance is provided by the American Association of Clinical Endocrinologists and the American College of Endocrinology (AACE and ACE). This guideline is available in PDF which requires Adobe Acrobat Reader which is available for free download at Adobe's Web site. Practice Guideline [Publication Type] Obesity Acid-base tutorial This resource is a tutorial on acid-base balance. It has sections on acid-base physiology, the production of acid, understanding pH, clinical considerations, terminology, acid-base history, clincal aspects, respiratory treatment, metabolic treatment, acid-base interpretation, terminology, and computing methods. A quiz on the Henderson Equation is provided, along with a list of refernces. The tutorial is produced on the Web by Alan W. Grogono, a professor in the Department of Anesthesiology, at the Tulane University School of Medicine.

59. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Gaucher Dise Mount Sinai Comprehensive Gaucher disease Treatment Center http//www.mssm.edu/gaucher/. Researching disease Dr. Roscoe Brady Gaucher disease http://www.jewishgeneticscenter.org/what/ashkenazi/gaucher.asp

Ashkenazi Disorders: Mendelian Gaucher Disease This disease is caused by the deficiency of an enzyme called beta-glucosidase. This enzyme is involved in breaking down a specific fatty substance in the body. Lack of this enzyme causes this fatty substance to accumulate in the bone marrow, spleen, liver, and other parts of the body, and can result in anemia, low platelet count and easy bruising and bleeding, bone pain, and bone fractures, even with little trauma. There are three forms of the disorder. The brain can be affected in some forms of the disorder. However, in type I, the form most common in the Jewish population, the brain is not affected. Treatment is available through replacement of the deficient enzyme. With treatment, individuals have a normal lifespan. Disease frequency: About 1 in 1,000 in Jews. Carrier frequency: As high as 1 in 10 in Jewish population. Diagnosis: By measurement of beta-glucosidase in the blood or by testing of Gaucher disease gene. Inheritance: Autosomal Recessive Carrier testing: Available by genetic testing of Gaucher disease gene. Testing can identify approximately 95% of carriers.

60. Gaucher Disease — Links Awareness and Prevention / Genetic Disorders / Gaucher disease. Doctors Guide Guide to Complete Internet Medical Resources / Gaucher disease http://www.gaucherdisease.com/links.html

Other On-Line Sources Gaucher Disease Treatment Program The Massachusetts General Hospital (at Harvard Medical School) Gaucher Center Gauchers Disease, UK The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gauchers disease. Its members are mainly in the UK and Ireland. National Gaucher Foundation The mission of The National Gaucher Foundation is to fund research, meet ever-increasing patients' needs, provide education and awareness, develop patient groups and eradicate Gaucher Disease. NGF has active local chapters in Philadelphia and Chicago. Gaucher Disease Awareness and Prevention / Genetic Disorders / Gaucher Disease Doctors' Guide Guide to Complete Internet Medical Resources / Gaucher Disease Gaucher Disease Diagnosis and Treatment Program - Univ. of Pittsburgh The National Organization for Rare Disorders, Inc. Disease Information / Gaucher Disease National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, Maryland

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20