1. International Society For Mannosidosis & Related Diseases, Inc. Information about the organization, its mission and services. Provides support, education and research Category Health Conditions and Diseases mannosidosis......The International Society for mannosidosis Related Diseases. How to contact us3210 Batavia Avenue Baltimore, MD 21214 USA 410.254.4903 info@mannosidosis.org, http://www.mannosidosis.org/

organization background communication gateway ... saminuria beta mannosidosis fucosidosis galactosialidosis schindler disease sialidosis: alexander's hope sitemap Our Mission Board of Directors Our Services ISMRD is the leading advocate for families worldwide affected by an Oligosaccharide Storage Disease . Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases, and to provide a network of support and information. A quarterly newsletter, Pathways , distributed at no charge to interested parties. Our informative website. Informational brochures about our organization and the Oligosaccharide Diseases Parent matching. Want to Help? make a donation ISMRD FEIN #: 52-2164838 State of Maryland Charity Registration #: 6421 How to contact us: 3210 Batavia Avenue Baltimore, MD 21214 USA info@mannosidosis.org Join us at The Penguin Cafe Message Board! Jump to other pages on our website!

2. MANNOSIDOSIS -THE DISEASE Clinical information for families of children with mannosidosis or alphamannosidosis. mannosidosis The Disease. The Tromso mannosidosis Group. http://www.fm.uit.no/~dagm/

Mannosidosis: The Disease The Tromso Mannosidosis Group This is information from the Tromsø Mannosidosis Group, University of Tromsø, Norway, edited by Senior Consultant Dag Malm (Clinical aspects), Institute of Clinical Medicine ; Assistant Professor Ole Kristian Tollersrud (Biochemical aspects), Department of Medical Biochemistry; and Senior Scientist Øivind Nilssen (Genetic aspects), Department of Medical Genetics, University Hospital of Tromsø, Norway. It is intended to be an informational resource for parents and laymen. It should not be used for diagnostic or treatment purposes. Professionals or scientists may want to search in the Online Mendelian Inheritance In Man database for additional aspects of the disease. CONTENTS Clinical Information Biochemical Aspects Genetics Therapeutic Approaches ... On The Horizon Clinical Information How long has the disease been known? The existence of so-called Hurler-like diseases had been known for many years when in 1967 Oeckermann in Lund, Sweden, described a boy who represented an isolated case of an apparently new disorder. Mental retardation, susceptibility to infection, coarse features, and skeletal abnormalities were seen. Unnormal white blood cells containing so-called vacuoles were found. The child died in an infection, and in the tissues total mannose, a particular sugar, was strikingly increased and alpha-mannosidase activity, the enzyme which normally should take care of these sugars, showed to be only a few per cent of expected. Since then, the disease has also been found in a number of other species, like in cattle and in cats.

3. GeneReviews: Alpha-Mannosidosis International Society for mannosidosis Related Diseases Information about the organization, its mission and services. http://www.geneclinics.org/profiles/a-mannosidosis

Your browser does not support HTML frames so you must view Alpha-Mannosidosis in a slightly less readable form. Please follow this link to do so.

4. 2772 Novel Mutations In A-mannosidosis. Program Nr 2772 Novel mutations in amannosidosis. Riise1, T. Berg2, H. Klenow3, G. Evjen4, E. Breines3, O.K. Tollersrud4, O. Nilssen3. leads to the lysosomal storage disorder a-mannosidosis (MIM 248500), an autosomal recessive disorder described in http://www.faseb.org/genetics/ashg99/f2772.htm

5. Alpha Mannosidosis Clinical Information Alpha mannosidosis Information for Families Professionals. Index. Back toContents. Where is alpha mannosidosis found and how is a diagnosis made? http://www.mannosidosis.org/alphaman/amanclinic.htm

start page clinical aspects biochemical info genetics therapeutic approaches Index How long has the disease been known? What is wrong? How does this affect the body? Where is alpha mannosidosis found and how is a diagnosis made? ... How can patients work socially? How long has the disease been known? The existence of so-called Hurler-like diseases had been known for many years when in 1967 Oeckermann in Lund, Sweden, described a boy who represented an isolated case of an apparently new disorder. Mental retardation, susceptibility to infection, coarse features, and skeletal abnormalities were seen. Abnormal white blood cells containing so-called vacuoles were found. The child died of an infection, and in the tissues total mannose, a particular sugar, was strikingly increased and alpha-mannosidase activity, the enzyme which normally should take care of these sugars, showed to be only a few per cent of expected. Since then, the disease has also been found in a number of other species, like in cattle and in cats. Back to Contents What is wrong?

6. NORD - Mannosidosis Offers alternative names, a general discussion and resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

7. Mannosidosis - OMIM Online Mendelian Inheritance in Man offers a collaboration of articles, research models, and case studies for the disease known as mannosidosis http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?248500

8. Taryn's World: All About Switches Personal page for kids and parents about genetic disorders, especially mannosidosis. http://www.tarynsworld.org/taryn/switches.htm

lost? you're in Taryn's World..and Welcome to it! Switches? Wanna know what's going on in your body or in the body of your brother, sister or friend? Especially when stuff makes you tired, or hurt or different from other kids your age? Well, you've come to the right place! Here's what we've got in store for you in this part of Taryn's World: a kid's guide to switches the scoop on the poop from one who knows! ethan's feeling switch the story of a boy who had a special switch that made everyone happy! taryn's club med here's where you can find stories about other kids with switches! one among billions a picture book for older kids who have switches! health for kids : neat places where we can go to learn more about our bodies, feelings and switches! for adults here 'r places where your parents can go for a grown-up explanation about switches!

9. The International Society For Mannosidosis the international society for mannosidosis related diseases http://www.mannosidosis.org/alphaman/alphaman.htm

Organizational Info Supported Disorders Communicate Links ... Sitemap T his information is provided by the Tromsø Mannosidosis Group, University of Tromsø, Norway, edited by Senior Consultant Dag Malm Clinical aspects ), Institute of Clinical Medicine ; Assistant Professor Ole Kristian Tollersrud Biochemical aspects ), Department of Medical Biochemistry; and Senior Scientist Øivind Nilssen Genetic aspects ), Department of Medical Genetics, University Hospital of Tromsø, Norway. It is intended to be an informational resource for parents and laymen. It should not be used for diagnostic or treatment purposes. Professionals or scientists may want to peruse the Online Mendelian Inheritance In Man database for additional aspects of the disease. For information concerning diagnostic services please consult the EDDNAL and GeneTests databases. information found in Norway. contents Clinical Information The Road So Far: the Tromso Story Spectrum of Mutations Jenny's Journal: Reclaiming a Life Through BMT ... Therapeutic Approaches Recent Scientific Abstracts Penguin Cafe Message Board Articles listed above, except for "Recent Scientific Abstracts," were written for our organization's informative newsletter

10. MANNOSIDOSIS Features Listed For mannosidosis. McKusick 248500. Ataxia; Beaked/wedgedvertebrae; Cataract; Cloudy corneae/sclerocornea; Coarse facial features; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1051

11. The Alliance Of Genetic Support Groups Web Workshop A short guide to using the Internet for advancing the aims of nonprofits (with particular focus on health nonprofits). http://www.mannosidosis.org/alliance/

The Genetic Alliance presents: T his site was designed as the online companion to a workshop presented at the Genetic Alliance annual conference November 12-15, 1999. Its usefulness hopefully will outlive its original venue and provide information and guidance to nonprofits specializing in health and, especially, genetics. Your suggestions and contributions are welcomed and solicited. Workshop Index Internet Guide , a basic introduction for newbies Internet Options , using technology to advance your Mission , the benefits and pitfalls of the electronic medium Links , an appendix of online resources Site last updated: July 14, 2000 "Genetics in the New Millenium: Meeting the Challenges" a presentation of the Genetic Alliance: A Coalition of Consumers and Professionals Annual Conference November 12-15, 1999 Web Workshop was moderated on Saturday November 13, 1999 by: Ed Madara : ashc@cybernex.net Paul Murphy : pmurf@ix.netcom.com Web Workshop URL: http://www.mannosidosis.org/alliance/index.htm This site is hosted by

12. Beta-Mannosidosis Search. Genetic DisordersDiscussion Beta-mannosidosis By Dagny VidinshNov 6, 2002, 1149am, http//dagron.com/ Beta-mannosidosis. Beta http://goatconnection.com/articles/publish/article_130.shtml

Where you can not only "get your goat" but find "all things goat" as well! GoatConnection.com TheWholeGoatCatalog.com Service of Khimaira Farm ~ Places To Go! ~ The Christmas Shop Site Map The Whole Goat Catalog Goat Connection Home Discussion Forum ComeToTheFarm Khimaira Farm Home Khimaira WebHosting Auction Goat FAQs Online Cookbook Poll and Surveys Gift-Wish List Registry Event Calendar Free Goat Banners Classified Ads Medical Assessment Pedigree Databases Photo Gallery Free WebSites Last Updated: Jan 28th, 2003 - 09:43:28 Articles - Home About - In The News Alternative Medicine Anatomy ... Youth-4-H Search All Categories About - In The News Alternative Medicine Anatomy Announcements - News Biosecurity Breeds of Goats CAEV Caseous Lymphadenitis Collecting tissue and other samples Color Descriptions Commercial Dairying Culling Digestive System Drugs - Dosages/Uses Eyes Fencing Fly control Genetic Disorders-Discussion Getting Your Goat Glossary Grants Guard Animals Health Values Herd Health and Management Housing Kid Care Lameness Listeriosis Mammary Glands Milk and Meat Products Muscular System Mycoplasmas Nervous System Parasites Poisonous Plants Polio - polioencephalomalacia Reproductive System Respiratory System Scrapie Skin Conditions Tattoo Travel-Shipping Regulations Urinary Waste Management Weights Measures Conversions Youth-4-H Advanced Search Genetic Disorders-Discussion

13. Beta-Mannosidosis Information from GoatConnection.com Genetic DisordersDiscussion Beta-mannosidosisBy Dagny Vidinsh Nov 6, 2002, 1149am. http//dagron.com/ Beta-mannosidosis. http://goatconnection.com/articles/publish/printer_130.shtml

Information from GoatConnection.com Genetic Disorders-Discussion Beta-Mannosidosis By Dagny Vidinsh Nov 6, 2002, 11:49am http://dagron.com/ Beta-Mannosidosis Beta-mannosidosis is a genetic defect of Nubians which is similar to G-6-S in its mode of transmission and in the method recommended for its management. Like G-6-S, it is confined to Nubian goats, it is caused by a simple recessive gene, and a DNA test is available to distinguish normal, carrier, and affected animals. As for G-6-S, the optimal management strategy, the one which offers the best balance between getting rid of the bad gene and saving the good genes, is to use only normal bucks. Unlike G-6-S, beta-Mannosidosis is rapidly fatal and no affected goats grow up to breed. For that reason the incidence of this defect is lower than the incidence of G-6-S, with only about 13% of the population being carriers. An affected kid is born with what looks like cerebral palsy. The kid is unable to stand or to hold up its head, and it shakes if it tries to do anything (intentional tremor). If it tries to reach the nipple it shakes violently and fails, but if the nipple is put in its mouth it calms down and is able to suck. It may also have skeletal deformities, and twitching eye movement and be deaf, but these symptoms are more obscure and variable. The cause of these difficulties is the lack of an enzyme which normally removes certain sugars from the cells. These sugars accumulate in the cells, and the cells of the nervous system show the effects first. Even with the best care the kid will die within a few weeks at the most.

14. The Society For Mucopolysaccharide Diseases mannosidosis. The booklet draws on the experiences of parents and doctorsand with reference to medical literature. What causes mannosidosis? http://www.mpssociety.co.uk/mannosidosis.htm

home the society faq hurler/scheie ... international contacts Mannosidosis Mannosidosis is a rare lysosomal storage disorder of the oligosaccharide family and closely related to the Mucopolysaccharidoses. Alpha-Mannosidosis was first described by Dr Oekermann, from Lund in Sweden, in 1967. There is another variant known as Beta-Mannosidosis which is extremely rare and has produced a wide range of clinical abnormalities in the few patients described with this disorder. Mannosidosis is an enzyme deficiency disorder which results in defective mannosidase activity and the accumulation of mannose-rich oligosaccharide chains. This accumulation is responsible for many problems that affect individuals with Mannosidosis. Whilst there is no cure for individuals affected by this disorder, a booklet published by the MPS Society sets out to demonstrate how Mannosidosis may present and how it may be clinically managed. The prospect of new therapies is also addressed. The booklet draws on the experiences of parents and doctors and with reference to medical literature. What causes Mannosidosis?

15. CCHS Clinical Digital Library Beta mannosidosis Clinical Resources. Miscellaneous Beta mannosidosis Clinical ResourcesHealth Reviews for Primary Care Providers on the Internet Homepage http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/glycoprot

Clinical Resources by Topic: Metabolic Disorders Beta Mannosidosis Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Beta Mannosidosis Patient/Family Resources Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO All MD Consult Reference Books for CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Mannosidosis: List of documents Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 16th Ed.-2000 (MD Consult):

16. CCHS Clinical Digital Library Beta mannosidosis Patient/Family Resources. Miscellaneous. Miscellaneous Betamannosidosis Patient/Family Resources Healthfinder (US DHHS) Homepage http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/glycop

Patient/Family Resources by Topic: Metabolic Disorders Beta Mannosidosis Patient/Family Resources Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Beta Mannosidosis Clinical Resources Canadian MPS Society: Homepage The MPS Disorders: Table of contents Mannosidosis: Table of contents Miscellaneous Beta Mannosidosis Patient/Family Resources Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed. YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed. YAHOO - Science:Biology:Genetics Additional Genetics resources ( These sites have not been reviewed. Health Sciences Library College of Community Health Sciences The University of Alabama Service provided by the Clinical Digital Libraries Project of the UA and UNT Schools of Library and Information Studies Powered by UA Digital Libraries Navigation Lab technology

17. Mannosidosis Articles, Support Groups, And Resources mannosidosis articles, support groups, and resources for patients from MedHelp International (www.medhelp.org). Health mannosidosis. Support http://www.medhelp.org/HealthTopics/Mannosidosis.html

[Health Topics A-Z] A B C D ... Z Mannosidosis Support Groups: International Society for Mannosidosis and Related Diseases, Inc. [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

18. International Society For Mannosidosis And Related Diseases, Inc International Society for mannosidosis and Related Diseases, Inc. International network.Founded 1999. mailtoinfo@mannosidosis.org http//www.mannosidosis.org. http://www.medhelp.org/amshc/amshc443.htm

Title: Malignant Hyperthermia Association of the U.S. Description: Education and support for malignant hyperthermia susceptible patients and their physicians. Information for health care professionals. Conducts limited research. Newsletter, literature, regional conferences. Scope: National network Founded: Address: 39 E. State St. P.O. Box 1069 Sherburne, New York, 13460 United States Telephone: 1-800-98-MHAUS Fax: Email: mhaus@norwich.net Web Address: http://www.mhaus.org This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

19. ORPHANET® : Alpha-mannosidosis Translate this page ORPHANET. ORPHANET database access. Alpha-mannosidosis. Direct accessto details Alias Lysosomal alpha-D-mannosidase deficiency. Home Page. http://www.orpha.net/static/GB/alpha_mannosidosis.html

ORPHANET database access Alpha-mannosidosis Direct access to details Alias : Home Page

20. ORPHANET® : Beta-mannosidosis Translate this page ORPHANET. ORPHANET database access. Beta-mannosidosis. Direct accessto details Alias Beta-mannosidase deficiency. Home Page. http://www.orpha.net/static/GB/beta_mannosidosis.html

ORPHANET database access Beta-mannosidosis Direct access to details Alias : Home Page

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