81. 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

B-0194 M. Patlas , M.Y. Shapira, J.M. Gomori; Jerusalem/IL MRI of mannosidosis Purpose: Report the MRI findings of mannosidosis. Methods and materials: Three patients with a -mannosidosis confirmed by leukocyte assay of acid- a -mannosidase activity were studied with conventional MRI of the brain. Two of the patients were brothers. 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. Conclusions: Tight foramen magnum and its associated findings have not been previously described in a -mannosidosis. Its appearance in the two brothers suggests that it might be a different subtype of a -mannosidosis. It is probably secondary to dysplasia of skull base. [ presentation ] [ index ]

82. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders: M Health Conditions and Diseases Genetic Disorders mannosidosis News at 0734 on May 22, 2004 Random quote You can http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord

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83. UNTSHC Clinic Digital Library Beta mannosidosis Patient/Family Resources. Miscellaneous. Miscellaneous Beta mannosidosis Patient/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

84. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Mannosidosis Alpha mannosidosis Clinical Resources Alpha mannosidosis Clinical Resources. Lysosomal (Keyword search) List of documents. Miscellaneous Alpha mannosidosis Clinical Resources http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Mannosidosis

85. 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

Clinical Resources by Topic: Metabolic Disorders Beta Mannosidosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Beta Mannosidosis Patient/Family Resources Otolaryngology and Facial Plastic Surgery (eMedicine): Table of contents Manifestations of Craniofacial Syndromes: Access document Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Skeletal Dysplasia: Access document Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Mannosidosis, Beta A Lyosomal: Access document Clinical Guidelines National Guideline Clearinghouse: MeSH browse Detailed search Lysosomal (Keyword search): List of documents Metabolism, Inborn Errors (MeSH browse): List of documents Clinical Trials ClinicalTrials.gov: Homepage Nutritional and Metabolic Diseases Trials: Table of contents Mannosidosis: List of documents YAHOO - Health:Medicine:Clinical Trials Additional Clinical Trials resources ( These sites have not been reviewed.

86. 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

87. 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

Directory Results for Mannosidosis assoicated to Health from Linkspider.org Keyword Search: Mannosidosis assoicated to Health Search and Browse Information about Mannosidosis assoicated to Health with The Linkspider Organization Search For: Match » -All words -Any word -Exact text Content » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Per-Page » default All Results Timeout » default 1 second 2 seconds 3 seconds 4 seconds 5 seconds 6 seconds 7 seconds 8 seconds 9 seconds 10 seconds 12 seconds 15 seconds 20 seconds Search Bar Download Suggest a Site Personalize Directory Topic Mannosidosis assoicated to Health Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Mannosidosis ( See Also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders - Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders.

88. 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_

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. NORD: Mannosidosis - Offers alternative names, a general discussion and resources. Try other search sites: Mannosidosis " search on: All the Web AltaVista Gigablast Google USENET ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Powered by ODP++

89. 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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90. 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

91. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Manno Web Sites in Category mannosidosis Display results 1 2 of 2 matches. •. International disorders. http//www.mannosidosis.org. http://www.zapmeta.com/search/meta/db.pl?dir=525095

92. The Canadian Society For Mucopolysaccharide & Related Diseases Inc. Profile mannosidosis, Symptoms or effects with a line under them mean that there is information related to them in the database. http://www.mpssociety.ca/display_diseases.php?uid=16

93. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?248500

94. Mannosidose (A En B) skip to content. http://www.erfocentrum.nl/zena/manno.php

erfelijkheid.nl winkel mail ons nieuwsbrief ... sitemap ZIEKTEN EN AANDOENINGEN ERFELIJKHEID LITERATUUR (PARA)MEDICI Beginpagina ... Ziekten en aandoeningen Mannosidose (A en B) Mannosidose (A en B) Synoniemen Lysosomale a -D-mannosidase deficiëntie Lysosomale b -D-mannosidase deficiëntie Korte beschrijving 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.

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