21. Short Description Of Cell Lines. Pathology Mannosidosis, Alpha B Version 4.200205, Short description of cell lines. Pathology mannosidosis,alpha b, lysosomal *248500 OMIM record. By selecting http://www.biotech.ist.unige.it/cldb/pat111.html

22. Health Library - Mannosidosis, Alpha mannosidosis, Alpha. Self Help Clearinghouse. Int'l Society for mannosidosisand Related Diseases, Inc. International network. http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29man

23. Health Library - Mannosidosis, Alpha mannosidosis, Alpha. Self Help Clearinghouse. Int'l Society for mannosidosisand Related Diseases, Inc. International network. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29m

24. Health Library - Mannosidosis, Alpha Saint Luke's Health System eLibrary. mannosidosis, Alpha. Self Help Clearinghouse.Int'l Society for mannosidosis and Related Diseases, Inc. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

25. Health Library - Mannosidosis mannosidosis. mannosidosis is a genetic disorder characterized by a lysosomal enzymedeficiency resulting in progressive mental and physical deterioration. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

26. Mannosidosis only. mannosidosis,, Print this article, deficiency of alpha mannosidasewhich leads to accumulation of glycoproteins in the tissues. http://www.amershamhealth.com/medcyclopaedia/Volume VII/MANNOSIDOSIS.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Mannosidosis, deficiency of alpha mannosidase which leads to accumulation of glycoproteins in the tissues. Clinically, children have craniofacial dysmorphism, psychomotor retardation, cataracts and hearing loss. Radiologically, the features mimic those of mucopolysaccharidosis. There is brachycephaly, sometimes craniostenosis, widened ribs, flattened vertebrae with anterior beaking at the thoracolumbar junction, widening of the tubular bones with some irregularity of the metaphyses, a narrow basal segment to the iliac wings and osteoporosis. HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia.

27. ORCID Mannosidosis Bibliography mannosidosis Bibliography. Internet Links. OMIM mannosidosis A OnlineMendelian Inheritance in Man database. OMIM mannosidosis B. http://www.orthogate.com/orcid/mannobib.htm

ORCID Orthopaedic Rare Conditions Internet Database Mannocidosis Contents Cases Comment Bibliography ... ORCID Contents Mannosidosis - Bibliography Internet Links OMIM Mannosidosis A Online Mendelian Inheritance in Man database OMIM Mannosidosis B Support group with some clinical information NORD Mannosidosis Page (National Organization for Rare Disorders) Mannosidosis, the Web Site PubMed Citations with special reference to Orthopaedics Eckhoff DG, et al. [See Related Articles] Severe destructive polyarthropathy in association with a metabolic storage disease. A case report. J Bone Joint Surg Am. 1992 Sep;74(8):1257-61. Wall DA, et al. [See Related Articles] Bone marrow transplantation for the treatment of alpha-mannosidosis. J Pediatr. 1998 Aug;133(2):282-5.

28. ORCID Mannosidosis Case mannosidosis Cases. I would like to know if anyone has experiencewith implanting a THP in a hip destructed by mannosidosis. This http://www.orthogate.com/orcid/mannocase.htm

ORCID Orthopaedic Rare Conditions Internet Database Mannocidosis Contents Cases Comment Bibliography ORCID Home Page ORCID Contents Mannosidosis - Cases I would like to know if anyone has experience with implanting a THP in a hip destructed by mannosidosis. This is a rare disease, where, because of defective mannisidase, normal degradation of glycoproteins is not possible. This causes (among others) mental retardation, skeletal problems and joint destruction. This joint destruction is said to be resembling rheumatoid arthritis. Our reumatologist presented me a 19 year old girl with a destructed right hip and severe pain. As you can see from the X-rays, it took some years to develop, and it looks to me that the pathology lies primarily in the bone of the acetabulum: The bone gradually disapears while the joint space in the beginning is not narrowed.(Not like RA) Since her life expectancy is limited and she is very disabled, a THP seems to be the only option. A large homologous bone graft (impaction grafting) will be nessesary, and I think there are two problems:

29. UNTSHC Clinic Digital Library Beta mannosidosis Patient/Family Resources. Miscellaneous Beta mannosidosisPatient/Family Resources Healthfinder (US DHHS) Homepage http://unthsc-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/glyc

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. Gibson D. Lewis Health Science Library

30. International Society For Mannosidosis And Related Diseases, Inc Return to Search Page International Society for mannosidosis and Related Diseases,Inc. Website http//www.mannosidosis.org Email info@mannosidosis.org. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Inte

31. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Conditions and Diseases Genetic Disorders mannosidosis . Provides support, educationand research on Alpha mannosidosis and other similar disorders. http://www.1uphealth.com/links/genetic-disorders-mannosidosis.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Mannosidosis Description See Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Sites Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders. NORD - Mannosidosis Offers alternative names, a general discussion and resources. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

32. 1Up Health > Health Links Directory >Conditions And Diseases:Genetic Disorders:M 1UpHealth Health Directory Conditions_and_Diseases Genetic_Disordersmannosidosis mannosidosis is a genetic disorder characterized http://www.1uphealth.com/links/desc-640.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Mannosidosis Mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

33. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Mannosidosis Similar pages Roche Lexikon Medizin (4. Aufl.) Mannosidasemangel-Syndrom, - Translate this page Man nosi da se mangel-Syndrom, mannosidosis. engl. mannosidosis. autosomal-rezessiverbliche Störung des Glykoprotein-Abbaus infolge http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Mannosidosis

34. Mannosidosis : Meddie Health Search ITEMS LINKS International Society for mannosidosis Related DiseasesInformation about the organization, its mission and services. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Ma

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Mannosidosis ITEMS: LINKS: Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

35. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders Sites International Society for mannosidosis Related Diseases Information about the organization, its mission and services. http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Genetic_Disorders/Mannosidosis Top Health Conditions and Diseases Genetic Disorders : Mannosidosis See also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Sites: - Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders. NORD - Mannosidosis - Offers alternative names, a general discussion and resources. Last update: 8:20 PT, Saturday, March 17, 2001 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

36. LysosomalStorageDisordersAlpha-Mannosidosis amannosidosis. Broadly, the disease can be sub-divided into mild and severe types,both very rare, although there is probably a continuum of phenotypes. http://www.sas-centre.org/genetic/genpages/lysstodisamannosidosis.html

a -Mannosidosis Broadly, the disease can be sub-divided into mild and severe types, both very rare, although there is probably a continuum of phenotypes. In the most severe type there is hepatosplenomegaly, severe dysostosis multiplex, deafness, progressive mental retardation and often early death. In the milder form there is a later onset and more prolonged course with less severe dysostosis multiplex and mental retardation, but deafness is a major problem. Enzyme Tests: Deficiency of lysosomal a -mannosidase is the primary defect. Back to Lysosomal Storage Disorders Index

37. Alpha-Mannosidase Uses and Limitations of the Method Deficiency of lysosomal ámannosidaseis the primary defect in a-mannosidosis, leading to storage of various http://www.sas-centre.org/genetic/genpages/lysstodisamannosidase.html

a -Mannosidase Principle of Method: Hydrolysis of the synthetic substrate 4-methylumbelliferyl- a -D-mannopyranoside at acid pH is followed by measuring the fluorescence of the liberated 4-methylumbelliferone after stopping the reaction with alkaline buffer. Uses and Limitations of the Method: a -mannosidosis , leading to storage of various oligosaccharides with an a- mannose residue at their non-reducing terminals. a -mannosidase is elevated in plasma from patients with I-cell disease and pseudo-Hurler polydystrophy , and is a useful enzyme to measure in amniotic fluid for prenatal diagnosis of these disorders. Prenatal diagnosis of a -mannosidosis is available by CVS or amniocentesis. Heterozygote detection may be possible in affected families but is not offered for screening in the general population. a -mannosidosis patients exhibit a distinctive abnormal oligosacchariduria, and this is a good screening test before definitive assay of the enzyme. Assay of a -mannosidase is included in all our lysosomal enzyme screening procedures. Specimen Requirements: Blood.

38. Health Library - Mannosidosis mannosidosis. mannosidosis is a genetic disorder characterized by a lysosomal enzymedeficiency resulting in progressive mental and physical deterioration. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

39. Searchalot Directory For Mannosidosis Related Web Sites. International Society for mannosidosis Related Diseases Information about the organization, its mission and services. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Mann

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40. Health Library - Mannosidosis, Alpha mannosidosis, Alpha. Self Help Clearinghouse. International Society for mannosidosisand Related Diseases, Inc. International network. http://www.billingsclinic.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29m

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