ECR 2001 - Presentation B-0194 B0194. M. Patlas, MY Shapira, JM Gomori; Jerusalem/IL. MRI of mannosidosis. Purpose Report the MRI findings of mannosidosis. Methods http://www.ecr.org/T/ECR01/sciprg/abs/pb0194.htm
Extractions: Results: All patients had widening of the diploic spaces with underdevelopment of the paranasal sinuses and two (unrelated) had prominent Virchow-Robin spaces. The two brothers had a tight foramen magnum with upward displacement of the brain stem without tonsillar descent. One of these brothers also had a C2-4 syrinx, and dilated perioptic nerve sheath CSF spaces associated with papilledema.
Rural Nurse Organization Clinic Digital Library Beta mannosidosis Clinical Resources. Lysosomal (Keyword search) List of documents. Miscellaneous Beta mannosidosis Clinical Resources http://ruralnurseorganization-dl.slis.ua.edu/clinical/metabolism/inborn/lysosoma
Extractions: Clinical Resources by Topic: Metabolic Disorders Beta Mannosidosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Pediatrics Resources See also General Pediatrics Resources Genetics Resources See also General Genetics Resources Clinical Guidelines Clinical Trials YAHOO - Health:Medicine:Clinical Trials
Health Library - mannosidosis. mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp
New Page 1 mannosidosis assoicated to Health Just The Best Results from the Linkspider Organization. Click here for mannosidosis assoicated to Health Websites. http://www.linkspider.org/index.cgi/Health/ConditionsandDiseases/GeneticDisorder
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Health Conditions And Diseases Genetic Disorders Mannosidosis Top Web Sites International Society for mannosidosis Related Diseases Information about the organization, its mission and services. http://www.pastconnect.com/odp/directory/Health/Conditions_and_Diseases/Genetic_
Extractions: Sponsored Links What are you looking for? the entire directory only in Genetic_Disorders/Mannosidosis Popular Categories Popular Searches Recent Categories Recent Searches ... Genetic Disorders : Mannosidosis Top Web Sites: - Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders.
Blackwell Synergy - Cookie Absent Morphological and biochemical studies of human mannosidosis identification of a novel -mannosidase gene mutation. A new case of beta-mannosidosis. http://www.blackwell-synergy.com/links/doi/10.1046/j.1365-2133.2003.05365.x/abs/
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MeSH-D Terms Associated To MeSH-C Term Mannosidosis MeSHD terms associated to MeSH-C term mannosidosis, G2D Home. The number indicates the strength of the association of the corresponding term to mannosidosis. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Mannosidosis:unknown
Extractions: Mannosidose is een zeldzame erfelijke en aangeboren stofwisselingsziekte die valt onder de lysosomale stapelingsziekten. Lysosomale stapelingsziekten zijn aandoeningen waarbij er door een verandering in het erfelijk materiaal een stoornis is in de lysosomen. Lysosomen zijn kleine organen (organellen) in een cel, die met behulp van enzymen -enzymen begeleiden chemische reacties- zorgen voor de afbraak en het hergebruik van veel stoffen. Het ontbreken of niet volledig functioneren van een van deze enzymen zorgt ervoor dat (afval)stoffen zich opstapelen in het lysosoom. Deze opeenstapeling is giftig voor de cel en bemoeilijkt daardoor het functioneren van het lysosoom, en uiteindelijk ook van de hele cel. Dit veroorzaakt ten slotte schade in weefsels en organen. Vanwege het ophopen van (afval)stoffen wordt over lysosomale stapelingsziekten gesproken. Bij mannosidose ontstaat er in de lysosomen een opeenstapeling van een bepaald type suikers (oligosacchariden) in verschillende delen van het lichaam, met name in het centraal zenuwstelsel. In geval van mannosidose A wordt dit veroorzaakt door een tekort aan activiteit van het enzym alfa-D-mannosidase, bij mannosidase B is het enzym beta-D-mannosidase de boosdoener. Er bestaan dus twee typen mannosidose.