41. The Canadian Society For Mucopolysaccharide Related Diseases Inc. Profile mannosidosis, Symptoms or effects with a line under them mean that Symptoms and Effects of mannosidosis. All items with information added will http://www.mpssociety.ca/display_diseases.php?uid=16

42. The Canadian Society For Mucopolysaccharide Related Diseases Inc. Testing for mannosidosis is not done during a standard pregnancy. If you already have a child with mannosidosis it is possible to have tests during a http://www.mpssociety.ca/display_details.php?uid=16&field=Diagnosis

43. Arch Neurol -- Abstract: Communicating Hydrocephalus And Lysosomal Inclusions In A 32year-old man with mannosidosis had a gait disorder develop that was associated with communicating hydrocephalus. The gait disorder improved with http://archneur.ama-assn.org/cgi/content/abstract/41/7/777

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 41 No. 7, July 1984 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Halperin JJ Kolodny EH Contact me when this article is cited Communicating hydrocephalus and lysosomal inclusions in mannosidosis J. J. Halperin, D. M. Landis, L. A. Weinstein, I. T. Lott and E. H. Kolodny A 32-year-old man with mannosidosis had a gait disorder develop that was associated with communicating hydrocephalus. The gait disorder improved with ventriculoperitoneal shunting, but proximal muscle weakness remained. Biopsy specimens of muscle and nerve disclosed typical lysosomal inclusions in both tissues, as well as selective loss of unmyelinated axons.

44. Hill Health Topics A-Z - Alpha-Mannosidosis Alphamannosidosis. National Organization for Rare Disorders. Important It is possible that the main title of the report Alpha-mannosidosis is not the name http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord420&SE

45. SciQuest: Search Scientific Journals And Books Online Plasma alphamannosidase activity as a means of detecting mannosidosis Identification of mannosidosis heterozygotes - factors affecting normal plasma http://www.sciquest.org.nz/default.asp?pageid=2&nzvet_pgno=1&fulltext=&VSUBJECT1

46. Alpha Mannosidosis In Cattle Search for more data on alpha mannosidosis in cattle Click the Search button to search for more information on alpha mannosidosis in cattle within the http://www.cabicompendium.org/NamesLists/AHPC/Full/ALPHAA.htm

Animal Health and Production Compendium The Animal Health and Production Compendium focuses on all aspects of animal health and production, including diseases, nutrition, husbandry and breeding. The Compendium covers several hundred topics in food-animal production (cattle, buffaloes, sheep, goats, pigs, poultry), including distribution, husbandry, housing, handling, identification, transport, behaviour, nutrition, genetics, reproduction, techniques, welfare, slaughter, meat, milk, eggs, products, pictures, bibliography and legislation. Search for more data on alpha mannosidosis in cattle Click the Search button to search for more information on alpha mannosidosis in cattle within the Animal Health and Production Compendium Preferred Scientific Name alpha mannosidosis in cattle © CAB International 2005

47. Alpha-Mannosidosis Synonyms, Eastern Carolina Alphamannosidosis Synonyms - University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/113457.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Alpha-Mannosidosis Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Alpha-Mannosidosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Lysosomal Alpha-D-Mannosidase Deficiency Alpha-Mannosidase B Deficiency Mannosidase, Alpha B, Lysosomal Mannosidosis Mannosidosis, Alpha B, Lysosomal Disorder Subdivisions None General Discussion Alpha-mannosidosis is one of a group of very rare inherited disorders known as glycoprotein and related storage diseases. These disorders are caused by a defect in the breakdown of complex molecules in the cells, as a result of an enzyme deficiency. The enzyme that is lacking is known as alpha-D-mannosidase. The molecules that are not broken down are stored in the small components within cells known as lysosomes. The approximately 50 diseases in which this occurs are known as lysosomal storage diseases. In addition to alpha mannosidosis and a related disorder, beta mannosidosis, the lysosomal storage disorders include Fabry disease, Gaucher disease, cystinosis, aspartylglycosaminuria, the mucopolysaccharidoses, the mucolipidoses, and others. There are two types of alpha-mannosidosis: type I and type II. Type I is much less common. Its symptoms may begin within the first year of life. Type II, the milder form, may begin during the juvenile or adult years.

48. Mannosidosis, Alpha, Eastern Carolina mannosidosis, Alpha University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117449.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Mannosidosis, Alpha This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. International Society for Mannosidosis and Related Diseases International network. Founded 1999. Provides emotional support for families affected by any oligosaccharide disorders of lysosomal storage. Offers educational resources for medical community. Promotes research to develop treatments. Phone support, literature, pen pals, information and referrals, newsletter, advocacy. Online message boards, chat rooms and e-mail discussions. WRITE: 3210 Batania Ave. Baltimore, MD 21214

49. UNTSHC Clinic Digital Library mannosidosis Table of contents. Miscellaneous Beta mannosidosis Patient/Family Resources. Healthfinder (US DHHS) Homepage. Genetics List of documents 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 MedlinePlus (National Library of Medicine) Health Topics: Index Genetic Testing: List of documents Prenatal Testing: List of documents Genetic Counseling: List of documents Genetic Disorders: List of documents Birth Defects: 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.

50. Guam Medical Libraries Digital Libraries Program mannosidosis, Alpha B Lyosomal Access document. Clinical Guidelines. National Guideline Clearinghouse MeSH browse Detailed search http://guam-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/glycoprot

Clinical Resources by Topic: Metabolic Disorders Alpha 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 Alpha Mannosidosis Patient/Family Resources Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents Medical Library subscription INFO Part V - Host Defense and its Disorders: Access document Chapter 49 - Lysosomal Storage Diseases: Perspectives 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 References: Access document MD Consult Reference Books: Table of contents Medical Library subscription INFO All MD Consult Reference Books for Otolaryngology and Facial Plastic Surgery (eMedicine): Table of contents Manifestations of Craniofacial Syndromes: Access document Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult):

51. Geneticalliance.org mannosidosis Support Groups. 2 organization(s) found. previous Page 1 of 1 next . Canadian Society for Mucopolysaccharide and Related Diseases Inc. http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

52. Geneticalliance.org International Society for mannosidosis Related Diseases 3210 Batavia Avenue Baltimore, MD 21214 Phone 410.254.4903 Fax Website http//www.mannosidosis. http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

53. Efficacy Of Enzyme Replacement Therapy In {alpha}-mannosidosis Mice: A Preclinic {alpha} mannosidosis is a lysosomal storage disorder which manifests itself in the excessive storage of mannose-containing oligosaccharides in the http://hmg.oxfordjournals.org/cgi/content/abstract/13/18/1979

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Human Molecular Genetics Advance Access originally published online on July 21, 2004 Human Molecular Genetics 2004 13(18):1979-1988; doi:10.1093/hmg/ddh220 This Article Full Text Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (4) Request Permissions PubMed PubMed Citation Articles by Roces, D. P. Articles by von Figura, K. Efficacy of enzyme replacement therapy in -mannosidosis mice: a preclinical animal study Diego Prieto Roces Jianhe Peng Chiara Balducci Claes Andersson Ole Tollersrud Jens Fogh Aldo Orlacchio Tommaso Beccari Paul Saftig and Kurt von Figura Anatomisches Institut, University Kiel, Otto-Hahn-Platz 8, 24043 Kiel, Germany

54. Alpha-Mannosidosis: Functional Cloning Of The Lysosomal Alpha- Mannosidase CDNA The clinical severity of alphamannosidosis ranges in a continuum from In order to explore the underlying mechanisms of alpha-mannosidosis and to http://hmg.oxfordjournals.org/cgi/content/full/6/5/717

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (30) Request Permissions PubMed PubMed Citation Articles by Nilssen, O. Articles by Tollersrud, O. K. Human Molecular Genetics Pages [alpha]-Mannosidosis: functional cloning of the lysosomal [alpha]-mannosidase cDNA and identification of a mutation in two affected siblings Introduction Results The mature human LAMAN consists of five different peptides processed from a single-chain precursor Isolation and characterization of ... References [alpha] -Mannosidosis: functional cloning of the lysosomal [alpha]-mannosidase cDNA and identification of a mutation in two affected siblings Nilssen Thomas Berg Hilde M. F.

55. GEMdatabase - Selected Title TITLE, Alphamannosidosis. DESCRIPTION, This review focuses on the diagnosis, CONDITIONS, Lysosomal Disorders, mannosidosis, Metabolic Disorders http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=822

56. Beta-mannosidosis - Descipher Health External Links. Retrieved from http//www.descipher.com/health/info/Beta-mannosidosis . Views......Betamannosidosis. From Descipher Health. http://www.descipher.com/health/info/Beta-mannosidosis

Do you have lab results? Beta-mannosidosis From Descipher Health Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Beta-mannosidosis Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

57. EUROPA - Research - Quality Of Life - Cell Factory - Community Funded Projects towards understanding and therapy of the inborn lysosomal storage disease alphamannosidosis. alpha-mannosidosis lysosomal oligomannose species http://europa.eu.int/comm/research/quality-of-life/cell-factory/volume1/projects

en document.write(''); document.write('English'); document.write(''); EUROPA European Commission Research Quality of Life Cell factory - Vol. 1 Contact Search A systematic and multidisciplinary approach towards understanding and therapy of the inborn lysosomal storage disease alpha-mannosidosis Project Cell factory area EU Contribution 1 557 640 Euro Duration 36 months Type Research project Starting date Keywords alpha-mannosidosis lysosomal oligomannose species ABSTRACT Alpha-mannosidosis is a rare, degenerative and chronic disease with multiple factors contributing to the degrees of progression. Since the patients are born healthy and exhibit a slow progression of clinical symptoms, an effective therapy initiated at early age could contribute to a normal evolution. This project is undertaken to reach such a therapy. Due to the complexity of the disease, the project requires an international effort with a plethoria of different techniques and disciplines involved. The aim is to reach a critical mass of understanding on both the molecular and pathophysiological level, and to use this knowledge to develop new strategies for therapy, using a mouse model of the disease. OBJECTIVES The main object of this project is to obtain a therapy for the lysosomal storage disease alpha-mannosidosis. To reach this goal the project will focus on the following objectives:

58. EUROPA - Research - Keyword Index All keywords Index feedback. The number of documents that contain the keyword alphamannosidosis is 1. Quality of Life - Cell factory - Community funded http://europa.eu.int/comm/research/index/pages_en__141.html

es de en fr it nl EUROPA ... Index feedback The number of documents that contain the keyword alpha-mannosidosis is: Quality of Life - Cell factory - Community funded projects European Commission - Cell Factory: A systematic and multidisciplinary approach towards understanding and therapy of the inborn lysosomal storage disease alpha-mannosidosis

59. Rural Nurse Organization Clinic Digital Library mannosidosis, Beta A Lyosomal Access document. Clinical Guidelines. National Guideline Clearinghouse MeSH browse Detailed search 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 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.

60. University Of Pennsylvania: School Of Veterinary Medicine - Department Of Clinic mannosidosis is a progressive storage disease caused by a deficiency of the enzyme alpha mannosidase in......mannosidosis. General Submission Form. http://w3.vet.upenn.edu/research/centers/penngen/services/deublerlab/mannosidosi

Department of Clinical Studies - Philadelphia Section of Medical Genetics - PennGen Mannosidosis General Submission Form Description: Mannosidosis is a progressive storage disease caused by a deficiency of the enzyme alpha mannosidase in cats and is inherited by an autosomal recessive mode. The disease results in massive storage of sugars (oligosaccharides) in lysosomes of neuronal tissue and other cells Clinical signs occur in the first month of life and are progressive, leading to death by a few months. Although the deficiency can be determined by enzyme measurements in blood, there is a DNA test for one specific disease-mutation in several Persian and domestic shorthair/longhair cats. Clinical Signs: Beside failure to thrive and growth retardation, clinical signs include facial dysmorphia, ataxia, head and body tremors, skeletal deformities, behavioral changes, seizures and visual deficits. Cataracts and organomegaly may also be noted. Cytoplasmic vacuolization may be recognized in white blood cells. Affected Breeds: Persian Domestic shorthair/longhair Required Samples: EDTA Blood, 1-2 mL or

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