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Gauchers Disease: more books (38)

Gaucher Disease
The Official Parent's Sourcebook on Gaucher's Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09
Gaucher Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-28
Type 3 Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-17
Gaucher Disease: A Century of Delineation and Research (Progress in Clinical & Biological Research)
Type 2 Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-17
Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease (Background paper)
Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-17
Type 1 Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-16
Gaucher Disease by Claus Niederau,
Lysosomal storage disease: Inborn Error of Metabolism, Lysosome, Organelle, Cell (biology), Tay-Sachs Disease, Gaucher's Disease, Cell Biology, Intracellular, ... Glycogen Storage Disease Type II, Enzyme.
Genetic Disorders Sourcebook Basic Information About Heritable Diseases and Disorders Such As Down Synd Rome Pku Hemophilia Von Willebrand Disease Gaucher Disease Tay-Sachs d - 1996 publication. by unkn, 1996
Biochemical and Morphological Studies of the Glycosphingolipidoses: Gaucher's Disease, Farby's Disease and Sandhoff's Disease by Susan Jane Desnick, 1972-01-01
Psychosocial Aspects of Heart Failure / Gaucher Disease / Emergency: Digital Photographs in the ED (American Journal of Nursing, Volume 103, Number 12, December 2003)

lists with details

Gaucher Disease - About Disease
Gaucher (pronounced goshay) disease is a genetic disorder, which results in the deficiency in Why Is Gaucher disease Type 2 and Type 3 More Serious?
http://www.childrensgaucher.org/about/aboutdisease.htm

Extractions: Visit Family Stories and find out more about these children Gaucher (pronounced 'go-shay) disease is a genetic disorder, which results in the deficiency in an enzyme, causing old cells to be stored in areas such as the liver, spleen, lungs, lymph system, and bones instead of being expelled from the body. In more severe cases,which affect young children, they also accumulate in the central nervous system. The human body contains specialized cells called macrophages that remove worn-out cells by degrading them into simple molecules for recycling. This process is analogous to eating and digesting food. The macrophages "eat" worn-out cells and degrade them inside cell compartments called lysosomes that serve as the "digestive tracts" of cells. The enzyme glucocerebrosidase (pronounced "gloo-ko-ser-e-bro-si-dase) is located within the lysosomes and is responsible for breaking down glucocerebroside into glucose and a fat called ceramide. People with Gaucher disease lack the normal form of the glucocerebrosidase enzyme and are unable to break down glucocerebriside. Instead, the glucocerebroside remains stored within the lysosomes preventing the macrophages from functioning normally. Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells. This is why Gaucher disease is often referred to as a "storage disease". Because the enzyme is not working properly, these undigested cells are "stored," and accumulate in various parts of the body.
Children's Gaucher Disease - Resource Directory
This page contains resources on Children s Gaucher disease on the internet.
http://www.childrensgaucher.org/resource/resourcedirectory.htm
Hill Health Topics A-Z - Gaucher Disease
It is possible that the main title of the report Gaucher disease is not the name Gaucher disease is the most common type of lysosomal storage disorder.
http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord12&SEC
Gaucher Disease
The Brookdale Hospital and Medical Center Brooklyn, New York.
http://www.brookdale.edu/html/gaucher_disease.html

Extractions: General Medicine Cardiology Endocrinology Gastroenterology ... Hematology Gaucher Disease Infectious Diseases Nephrology Pulmonary Medicine Rheumatology Center for Diagnosis and Treatment of Gaucher Disease Director: Mark Levin, MD. Gaucher Disease: The Jewish Community at Risk Genny, a 73-year-old Jewish woman from Russia, came to Dr. Mark Levin with an enlarged liver and spleen, pain in her back and joints, and advanced anemia. Dr. Levin, Brookdale's Director of the new Center for Diagnosis and Treatment of Gaucher Disease and Co-Director of the Division of Medical Oncology, diagnosed Gaucher Disease, a rare genetic disorder that targets Ashkenazi Jews, natives of Central and Eastern Europe. Mark Levin, MD of Gaucher Disease Two thirds of the victims of Gaucher (pronounced "go-shay") are Ashkenazi Jews. The disease strikes one in every 500 Ashkenazi Jews and is carried by one in every 10. New York City is estimated to have one-fourth of the Gaucher population of the country. Among the general population, only about one in every 20,000 to 40,000 has Gaucher Disease. Brookdale's Expertise "It is believed that for every known case of Gaucher, two cases remain undiagnosed," says Dr. Levin. Individuals of Jewish ancestry, with or without a family history, are candidates for testing. Unless symptoms appear, screenings are recommended only for those 18 and older. If you have a family history or symptoms, you can receive an evaluation and a simple and free blood test at The Brookdale University Hospital and Medical Center, either on our main campus at Linden Boulevard and Rockaway Parkway, or at our satellite office in Sheepshead Bay at 1616 Voorhies Avenue.
GAUCHER DISEASE : Contact A Family - For Families With Disabled Children: Inform
Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders.
http://www.cafamily.org.uk/Direct/g15.html

Extractions: helpful? yes no Gaucher disease is a lysosomal storage disorder that is caused by an inherited deficiency of the enzyme glucocerebrosidase. In Type 1 symptoms may appear at any time from infancy to old age. The disease is associated with anaemia (anaemia - US), fatigue, bruising and an increased tendency to bleed. An enlarged spleen and liver with abdominal distension may also occur as well as bone pain, fractures and skeletal degeneration. In the neuropathic forms of the condition (Types 2 and 3) involvement of the central nervous system is seen. Inheritance patterns
Lab. Diagnosis Of And Genetic Counseling For Gaucher Disease
Gaucher disease (GD) is divided into three subtypes based on clinical signs An improved procedure for diagnosis of Gaucher disease using cultured skin
http://gaucher.mgh.harvard.edu/clinicalperspectives/April1996/labdiagnosis.html

Extractions: Pittsburgh, Pennsylvania Gaucher disease (GD) is divided into three subtypes based on clinical signs and symptoms: Type 1 (nonneuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). [ l ] All three types of GD are caused by a deficiency of gluco-cerebrosidase (GC) resulting in the accumulation of glucosylceramide within the cells of the reticuloendothelial system. The principal difference among the types is the presence and progression of neuro-logic complications. The symptoms of any type may begin in infancy; however, the designation of clinical subtype is made on the basis of clinical manifestations in the nervous system and is a more appropriate classification than one based on age at onset (Table 1) . The assignment of type, especially in children, should he made only after a careful examination of the presence and progression of related neurologic abnormalities because of the significant differences in prognosis.
National And International Gaucher Disease Patient Organizations List
National and International Gaucher disease Patient Organizations List Argentina Asociacion Gaucher Argentina Leopoldo Marechal 1314 Dto.2 1414 Buenos
http://gaucher.mgh.harvard.edu/orglist.html

Extractions: Argentina Asociacion Gaucher Argentina Leopoldo Marechal 1314 Dto.2 1414 Buenos Aires, Argentina Telephone:54-1-854-5196 E-Mail: silviag@mbox.servicenet.com.ar Australia Gaucher Association of Australia 6 Logan Street Capalaba 4157 Queensland, Australia 61-7-245-1848 Brazil Associacao Brasileira dos Portadores da Doenca de Gaucher Rua Nilo Pecanha, 155 SL Rio de Janeiro, RJ Brazil Tel: 55-21-220-8633 Canada National Gaucher Foundation of Canada c/o Mark Freedman Harris, Sheaffer Barristers and Solicitors, Yonge Corporate Center, 4100 Yonge St., Suite 310, North York M2P 285, Ontario, Canada 416-250-2850 416-250-5300 (fax) France Caincre les Maladies Lysosomales, 9, place du 19 mars 1962, 91035 Evry, France 33-60-91-75-00 33-69-36-93-50 (fax) Germany Gaucher Gesellschaft Deutschland, An der Ausschacht 9, 59556 Lippstadt, Germany 49-2941-21939 Israel Israeli Gaucher Patient Association, Century Towers Iben Gvirol 124, Tel Aviv 62038, Israel 972-3-522-6482 972-3-527-2166 (fax) Italy Associazione Italiana Gaucher, Piazza della Constituzione, 7, 50129 Florence, Italy 39-55-483744
Links To Other LSD Sites
NIHs NINDS Gaucher disease disease information and links Information and links about Gaucher disease geared towards kids http//www.gaucherkids.com/
http://www.lsdn.com/links.htm

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Nutritional And Metabolic Diseases
Gaucher s disease Service at Addenbrooke s (UK). Gaucher disease a case study companiom to Robbins Pathologic Basis of disease
http://www.mic.ki.se/Diseases/C18.html

Extractions: Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Zellweger Syndrome Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The USDA Nutrient Database for Standard Reference - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and Food Color Facts , and a
PharmGKB: Gaucher Disease
Alternate Names, Acute Neuronopathic Gaucher disease; Cerebroside Lipidosis Syndrome; Cerebroside Lipidosis Syndromes; Chronic Gaucher disease;
http://www.pharmgkb.org/do/serve?objId=PA444258&objCls=Disease
Gaucher's Disease - Definition Of Gaucher's Disease By The Free Online Dictionar
Definition of Gaucher s disease in the Online Dictionary. Meaning of Gaucher s disease. What does Gaucher s disease mean? Gaucher s disease synonyms
http://www.thefreedictionary.com/Gaucher's disease

Extractions: Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin monogenic disease monogenic disorder - an inherited disease controlled by a single pair of genes lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
MedlinePlus Medical Encyclopedia: Gaucher Disease
Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in The infantile form of Gaucher disease may lead to early death.
http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm

Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Bone marrow aspiration Gaucher cell, photomicrograph Gaucher cell, photomicrograph #2 Hepatosplenomegaly Alternative names Return to top Glucocerebrosidase Deficiency; Glucosylceramidase Deficiency Definition Return to top Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in the buildup of a toxic substance (glucosylceramide) in different parts of the body, such as the spleen, liver, and bones. Causes, incidence, and risk factors Return to top Gaucher Disease is an inherited disorder that affects an estimatedÂ 1 in 50,000 to 1 in 100,000 people in the general population. Individuals of Eastern and Central European (Ashkenazi) Jewish heritage are at higher risk for being affected. Deficiency of the enzyme glucocerebrosidase causes the lysosomes to become congested with glucosylceramide. These congested lysosomes buildup in the liver, spleen, bones, and bone marrow. This, in turn, leads to decreased production of red blood cells (anemia), and thinning of the bones (osteopenia). It is an autosomal recessive disease. This means that an affected child would inherit two abnormal copies of the enzyme, one from the mother and one from the father. The parents are known as carriers since they do not have the disease, but silently harbor one abnormal copy of the gene.
Gaucher's Disease (Print Version)
From the National Institutes of Health; Gaucher s disease (National Institute of Genetics; Genetics Home Reference Gaucher disease (National Library of
http://www.nlm.nih.gov/medlineplus/print/gauchersdisease.html

Extractions: To close this window, click on the "x" in the upper right hand corner of the window. URL of this page: http://www.nlm.nih.gov/medlineplus/gauchersdisease.html From the National Institutes of Health Gaucher's Disease (National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm Researching Disease: Dr. Roscoe Brady and Gaucher Disease (National Institutes of Health) - http://history.nih.gov/exhibits/gaucher/ Overviews Gaucher Disease (Center for Jewish Genetic Diseases) - http://www.mssm.edu/jewish_genetics/diseases/gaucher.shtml Gaucher's Disease (Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/invoke.cfm?id=AN00840 Diagnosis/Symptoms Diagnosis and Treatment (Center for Jewish Genetic Diseases) - http://www.mssm.edu/gaucher/diag.shtml Prevention/Screening Genetic Testing for Inherited Diseases (American Association for Clinical Chemistry) - http://www.labtestsonline.org/understanding/conditions/pregnancy-12.html
Gaucher Disease Type 1
Gaucher disease Type 1 is the most prevalent Jewish genetic disease.
http://judaism.about.com/od/health/p/gaucher.htm

Extractions: var zLb=9; zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Judaism World Jewry Today Health Gaucher Disease Type 1 Judaism Essentials Intro to Judaism Jewish Life Events ... 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); Sign Up Now for the Judaism newsletter! About Jewish Genetic Disorders About Judaism: Jewish Genetic Disorders About Gaucher Disease About Healthcare: Gaucher Disease About Arthritis: Gaucher Disease About Rare Diseases: Gaucher Disease Elsewhere on the Web National Gaucher Foundation Children's Gaucher Research Fund Gaucher Disease Most Popular Hebrew Names - Naming a Jewish Baby Hebrew Names for Boys - Naming a Jewish Baby Basic Beliefs of Judaism - Judaism 101 Hurricane Katrina Prayer ... Why Bad Things Happen to Good People - Judaism What's Hot The Month of Elul - Jewish High Holidays Hurricane Katrina Prayer Levels of Tzedakah Hebrew Names for Girls ... Ask the Rabbi - Star of David - Magen David Profile From Lisa Katz
Mayenne Properties - What We Do
my Dad was diagnosed with a very rare genetic disorder called Gaucher disease. There is no cure for Gaucher disease, but it is treatable and every week
http://www.mayenneproperties.com/charity.asp

Extractions: Kate's Story In June 2000 my Dad was diagnosed with a very rare genetic disorder called Gaucher Disease. There is no cure for Gaucher Disease, but it is treatable and every week my Dad had to infuse himself with a man made enzyme. Normally this enzyme is in everyone's blood, but it is missing in people with Gaucher Disease. Gaucher Disease causes most problems within the skeletal system. A lot of Gaucher cells group together and cause oxygen to stop following naturally through the bones. This happened to my Dad and part of his spine collapsed and he was in terrible pain. He had to go into hospital for seven weeks, even over the Christmas holiday, and have an operation to put metal plates in his back to support it. Gaucher Disease also causes the spleen and the liver to swell up to twenty times their normal size. This then causes problems within the blood. My Dad used to get bruises very easily and had to have many blood transfusions. The man made enzyme helps the body to get back to normal, although people with this disease have to do an infusion every week for the rest of their lives. Most people are able to lead relatively normal lives but sometimes have severe bone pain.
Gaucher Disease - WI, Milwaukee WI
Gaucher disease Columbia St. Mary s Community Physicians of Wisconsin, Milwaukee, Ozaukee and Washington County.
http://www.columbia-stmarys.org/13611.cfm

Extractions: Print Search Send to a friend Home ï¿½Diseases, Conditions and Injuries Pronounced: go-shay disease by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease: Type I ï¿½ the most common type. It is found widely in people of Ashkenazi Jewish descent. Type II ï¿½ very rare, but rapidly progressive form of Gaucher disease. Type III ï¿½ very rare form. Most cases have been found in Sweden, Scandinavia, and Japan. 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. 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. 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.
SimulConsult Cases Blog: Gaucher Disease
A bone marrow biopsy demonstrated Gaucher disease, which was classified as Even with only the first two findings, Gaucher disease type 3 is listed as
http://simulconsult.com/neurologicalsyndromes/reports/gaucher2.html

Extractions: Cases Blog: Gaucher Disease An account by a mother on the web site of The Gauchers Association M seemed much like the others, for sometime at least. Then ocular motor apraxia was diagnosed as a result of M 's unusual eye movements. We noticed them when she was nine months. I was not too worried, it did not seem like a big deal, interesting we were told. And then she started to choke which was very frightening the first time. Throwing her over my knee and pummelling her back became part of the meal time routine. ... an urgent appointment was made to see a paediatrician ... Having thoroughly examined M , he told us her liver and spleen were greatly enlarged and she would need further investigations. One of the doctors kept remarking how interesting her unusual motor skills were. We had also noticed she seemed stiffer in her upper body than other babies her age. A bone marrow biopsy demonstrated Gaucher disease, which was classified as type 3. Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes.
About Holy Name Hospital Home Page
Mount Sinai Comprehensive Gaucher disease Treatment Center http//www.mssm.edu/gaucher/. Researching disease Dr. Brady Gaucher disease
http://www.holyname.org/about_holy_name/resources.htm
Guidelines For Magnetic Resonance Imaging (MRI) Assessment Of Gaucher Disease In
The Gaucher disease Advisory Committee (GDAC) has asked that the following information be forwarded to treating doctors of Gaucher patients to assist in the
http://www.health.gov.au/internet/wcms/publishing.nsf/Content/health-pbs-general

Extractions: Skip to Search Skip to Banner Navigation Skip to Main Navigation Skip to Content Search Sitemap A-Z Index Links Contact Us ... Alternative Arrangements for Medicines The Gaucher Disease Advisory Committee (GDAC) has asked that the following information be forwarded to treating doctors of Gaucher patients to assist in the assessment of these patients by radiologists following an MRI. In order to assess marrow changes in patients with Type 1 Gaucher disease, who are receiving enzyme replacement therapy, serial MRI's are requested at annual intervals. The aim is to compare features with the previous images to detect changes, which might suggest clearing of the accumulated metabolite from bone marrow cells during the course of therapy. The GDAC has arranged for central reading of MR images in addition to primary reading by the radiologist performing the MRI study. 'Guidelines for MRI assessment of Gaucher Disease in Adults" written by Patsy Robertson are attached. It is important that the MR examinations are conducted in a standard fashion so that serial central reading will provide objective information for assessing response to enzyme replacement therapy. Patsy Robertson, February 2003
Gaucher Disease CHOICE For University Of Kansas Hospital
Health and wellness services, medical information, and interactive health features for our user community.
http://community.healthgate.com/GetContent.asp?siteid=kumc&docid=/dci/gaucher

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