Health Library - Mannosidosis, Alpha Search. mannosidosis, Alpha. Self Help Clearinghouse. Int'l Society for mannosidosisand Related Diseases, Inc. International network. http://www.uvmc.com/library/healthguide/SelfHelp/topic.asp?hwid=shc29man
Cat-World.com Also see Health, Nutrition Behaviour Links AK. Liver Disease, mannosidosis,Medical Terminology, Medication, Megaesophagus. mannosidosis. http://www.cat-world.com/Healthl-z.htm
Mannosidosis mannosidosis Provides support, education and research on Alpha mannosidosisand other similar disorders. SUBCATEGORIES. Up. America Medica, Inc. ®. http://www.medlina.com/mannosidosis.htm
Women's & Children's Hospital - Young Investigator Award Entrants Lysosomal Diseases Research Unit, Chemical Pathology. Neural stem cell therapyfor treatment of brain pathology in the alphamannosidosis guinea pig. http://www.wch.sa.gov.au/wchweek/investigator/entrant-ar.html
Extractions: Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006 Alpha-mannosidosis is an inherited lysosomal storage disease (LSD) causing progressive mental retardation in affected patients. Patients presenting with this disease have a life expectancy anywhere between 3 years and adulthood, but suffer from a worsening mental condition throughout their life. Although bone marrow transplantation has shown limited success as a treatment for this disease, it is not suitable for all patients and is a high risk procedure. Stem cells are cells in the body defined as having the potential to change into multiple other cell types under appropriate conditions. Neural stem cell therapy involves the injection of stem cells into the patient's brain, such that they can integrate with other cells to provide a therapeutic effect. This strategy is particularly promising for the treatment of LSDs, because many of these disorders, including alpha-mannosidosis, are caused by the deficiency of a single protein. The alpha-mannosidosis guinea pig represents an excellent animal model to study brain pathology, due to the similarity of disease symptoms and progression to that observed in humans.
Extractions: MANNOSIDOSIS - OMIM: 248500 Code number Disease Sample type Clinical phenotype Family number MANNOSIDOSIS Fibroblast Affected in progress ... in progress Site by Dr. Mirella Filocamo Weekly update by Lucia Obino. Last update: 27/01/2003 10.17.34 Telethon grants have made this catalogue possible Best view 800x600 with Internet Explorer
A-D-Mannosidase EC. 3.2.1.24. aDMannosidase (mannosidosis). mannosidosis is een autosomaal recessieveaandoening, waarbij er geen activiteit van het enzym a -D-mannosidase is. http://beheer.oprit.rug.nl/bloks/26_a-d-mannosidase.htm
Extractions: EC. 3.2.1.24 a-D-Mannosidase (Mannosidosis) Structure Mannosidosis is een autosomaal recessieve aandoening, waarbij er geen activiteit van het enzym a -D-mannosidase is. Dit enzym, waarvan het coderende gen waarschijnlijk op chromosoom 19 ligt, is betrokken bij de afbraak van glycoproteïnen. Glycoproteïnen bestaan uit oligosaccharideketens, die covalent gebonden zijn aan een peptideketen. Deze eiwitten komen in alle cellen veel voor, en normaalgesproken vindt er veel afbraak plaats. De afbraak verloopt hoogstwaarschijnlijk in de lysosomen, waar de peptideketen afgebroken wordt door een reeks van lysosomale peptidases. Het belangrijkste mechanisme in de afbraak van de oligosaccarideketens van glycoprote nen, omvat een serie van hydrolytische stappen, waarbij telkens een deel wordt verwijderd van het niet-gereduceerde eind van de oligosaccharideketen. De enzymen die bij dit proces een rol spelen zijn neuraminidase, B -galactosidase, B -N-acetylhexosaminidase, B -mannosidase, A -mannosidase en " A-fucosidase. De deficiëntie van een van deze lysosomale enzymen leidt tot stapeling van afbraakprodukten. Bij mannosidosis en sialidosis worden alleen oligosacchariden gestapeld. Bij aspartylglycosaminuria worden alleen glycoprote De klinische verschijnselen kunnen bij mannosidosis zeer divers zijn. Er worden twee types onderscheiden; een ernstig, infantiel type I, en een milder, juveniel-adult type II.
Page Not Found mannosidosis, alpha B. Syndrome, mannosidosis, alpha B. Gene Name, Mannosidase,alpha B, lysosomal. Gene Symbol, MANB. OMIM Number of the Gene, 248500. http://www.nidr.nih.gov/cranio/detail/248500.htm
Mioti: Medical Condition Condition mannosidosis. NORD mannosidosis. Information from the NationalOrganization for Rare Disorders. General Topics. Clinical Trials. Conferences. http://www.mioti.com/cat/condition/condition.asp?Cat=Mannosidosis
EnableNet - Enablenet.browse.browse Dis Multiple Disabilities Lysosomal Storage Disorders mannosidosis mannosidosis Matching Resources. Records 11 of 1 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2810
John's Journal Issue 1 1997 our 22 years of isolation and ignorance ended when we made contact through theinternet with Paul Murphy, a parent of Taryn who is affected by mannosidosis http://www.ldnz.org.nz/LDNZJohnsJournal1.htm
Extractions: Back to Newsletters JOHNS JOURNAL - ISSUE 1 This journal is a diary of John Forman's efforts to promote research and improvements to information and clinical care for Lysosomal Storage disorders. It is written as a record of events and contacts, and to assist those who may wish to pursue any interest in the disorders by informing them faster of what has been done, and who is doing what. July 1997 - March 1999. Getting Started From zero to go in a year and nine months Step 1 - Start with some knowledge of the condition. In 1997 our 22 years of isolation and ignorance ended when we made contact through the internet with Paul Murphy, a parent of Taryn who is affected by Mannosidosis. Paul has put together a website www.mannosidosis.org which gives access to probably all that is currently known about the condition. At about the same time we corresponded with Dag Malm who is also a parent. In his case two of his three children, Emilie and Silje, are affected by this condition. Dag is a medical specialist at the University Hospital, Tromsoe, Norway. He has collaborated with other researchers there to do major research on the condition, identifying the enzyme, the gene and its sequence, and the mutations that occur. Further contacts during 97 included:
Browsing Health Conditions And Diseases Genetic Disorders Mannosidosis Category Similar pages CLASSIFIEDS.TERADEX.COM Health/Fitness/Diseases/Genetic CLASSIFIEDS.TERADEX.COM - Health/Fitness/Diseases/Genetic Disorders/mannosidosis. CLASSIFIEDS/ Health/Fitness / Diseases / Genetic Disorders / mannosidosis. http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/Genetic_Dis
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Bibb County Medical Center - RAAHEC Alpha mannosidosis Clinical Resources. Miscellaneous Alpha mannosidosis ClinicalResources Health Reviews for Primary Care Providers on the Internet Homepage http://bibbcountymc-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/g
Extractions: Clinical Resources by Topic: Metabolic Disorders Alpha Mannosidosis Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: MD Consult Reference Books: Table of contents Lister Hill Library subscription INFO CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 16th Ed.-2000 (MD Consult):
Cell And Molecular Biology: Faculty: Mark Haskins mucopolysaccharidoses (MPS) I, VI, and VII (aLiduronidase, 4-sulfatase, and ß-glucuronidasedeficiencies, respectively), alpha mannosidosis (a-mannosidase http://www.med.upenn.edu/camb/fac/Haskins.html
Extractions: e-mail mhaskins@vet.upenn.edu Research description: Recent Publications: Vite C.H., McGowan J.C., Braund K.G., Drobatz K.J., Glickson J.D., Wolfe J.H., Haskins M.E. (2001) Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis. J Neuropath Exp Neurol 60:817-828. Simonaro, C.M., Haskins, M.E., and Schuchman, E.H. (2001) Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: A possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab Invest 81:1319-1328. Ho, T.T., Maguire, A.M., Aguirre, G.D. Surace, E.M., Anand, V., Zeng, Y., Salvetti, A., Hopwood, J.J., Haskins, M.E., Bennett, J. (2002) Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J Gene Med (in press)
Open Classes's $p->page_title Polska Svenska Open Directory Health Conditions and DiseasesGenetic Disorders mannosidosis Previous Catagory. See also http://dodo101.ath.cx/expat/odp.php/Health/Conditions_and_Diseases/Genetic_Disor
Extractions: Open Directory Edit Add URL Update URL Description ... Svenska Open Directory - Health: Conditions and Diseases: Genetic Disorders: Mannosidosis [ Previous Catagory See also: Open Directory - Health: Conditions and Diseases: Genetic Disorders: Mannosidosis [ Previous Catagory All the Web AltaVista Deja Google ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor
Metabolic Genetic Conditions Icell, Krabbe, lactic acidosis, long chain 3 hydroxyacyl CoA dehydrogenase deficiency(LCHAD), lysosomal storage diseases, mannosidosis, maple syrup urine http://www.kumc.edu/gec/support/metaboli.html
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Mendelian Inheritance And Beyond Alphamannosidosis is a disease in Angus and Galloway cattle. Anotherexample of such a recessive disease is Beta-mannosidosis. http://sask.usask.ca/~schmutz/Mendelian.html
Extractions: Mendelian Inheritance and Beyond Epistasis and gene interaction......beyond single single inheritance. Gene Interaction References This webpage was last updated on February 11, 2003 by Sheila Schmutz schmutz@sask.usask.ca Mendelian Inheritance Gregor Mendel chose a small set of traits in peas to develop his principles of genetics. There has been considerable debate since whether he studied only these traits or chose to build his founding principles using the data from only these traits. His principles have now stood the test of time. However there are additional concepts about inheritance that need to be added to cover other traits. Some concepts will probably still be developed as our understanding continues to build on the foundation his principles set. Autosomal Dominant Traits are those in which a single copy of an allele is enough for the trait to be expressed or shown in the phenotype of the animal. One common example is Polled or the lack of horns in cattle. For a visit another page in this series.