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Alkaptonuria:     more detail

Alkaptonuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Margaret, PhD Alic, 2005 Alkaptonuria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19 The Genetic Basis of Alkaptonuria. Contained in Proceedings of the Royal Society of Edinburgh Session 1931-32, Volume 52, Issue 3 pages 264-295. by Lancelot Hogden , 1932-01-01 Skin Conditions Resulting From Errors in Metabolism: Phenylketonuria, Adrenoleukodystrophy, Gout, Porphyria, Lafora Disease, Alkaptonuria

lists with details

21. Alkaptonuria
    V W X Y Z . Back Home Next. alkaptonuria. alkaptonuria andOchronosis Notebook. Alliance of Genetic Support Groups national  
    http://www.ability.org.uk/Alkaptonuria.html
    
    Extractions: Our Aims Services Stats ... Z Alkaptonuria Alkaptonuria and Ochronosis Notebook Alliance of Genetic Support Groups - national coalition of consumers, professionals and genetic support groups to voice the common concerns of children, adults and families living with, and at risk for, genetic conditions. Online Genetic Syndrome Support Groups - Sites are listed alphabetically by disease/conditon. Peter's Anomaly Support Group - An online support group for people dealing with Peter's Anomaly Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

22. ORPHANET® : Alkaptonuria
    ORPHANET. ORPHANET database access. alkaptonuria. Direct access to detailsAlias Homogentisic acid oxydase deficiency,Ochronosis. Home Page.  
    http://www.orpha.net/static/GB/alkaptonuria.html

23. Service Page - Pathologie Information
    DISEASE alkaptonuria, Synonym CIM E70.2, Hereditary ochronosis, or alkaptonuria,results from deficiency of homogentisic acid oxidase. It  
    http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=56

24. Alkaptonuria
    Browse backwards .. Browse forwards .. Menu. alkaptonuria. SynonymsAlcaptonuria, Homogentisic aciduria McKusick No. 20350. 1. Physical.  
    http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/6158.htm
    
    Extractions: Metabolic pathway illustrated Browse backwards Browse forwards Menu Alkaptonuria Synonyms Alcaptonuria, Homogentisic aciduria McKusick No. 1. Physical 2. Neurological 3. Gastrointestinal 4. Renal 5. Bone 6. Comment 7. Haematological 8. Biochemical Treatment Carrier detection Prenatal diagnosis Expand periodical title abbreviations MBID (1989) Chapter 27

25. Alkaptonuria Resources On The Internet
    alkaptonuria. News Search millions of published articles for news about alkaptonuria A brief discussion about this disease and its statistics world wide.  
    http://www.healthcyclopedia.com/alkaptonuria.html
    
    Extractions: The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report

26. 1Up Health > Alkaptonuria > Causes, Incidence, And Risk Factors Of Alkaptonuria
    Comprehesive information on alkaptonuria (Alcaptonuria, Homogentisic acid oxidasedeficiency, Ochronosis). alkaptonuria Causes, Incidence, and Risk Factors.  
    http://www.1uphealth.com/health/alkaptonuria_info.html
    
    Extractions: 1Up Health Alkaptonuria Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Alkaptonuria Information Alkaptonuria Causes, Incidence, and Risk Factors Alternative names : Alcaptonuria, Homogentisic acid oxidase deficiency, Ochronosis Definition : Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Alkaptonuria is an autosomal recessive inherited disorder. It is a disorder of tyrosine (an amino acid) metabolism resulting from a defect in the enzyme homogentisic acid oxidase. Homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow) which led to the name ochronosis. The bones and cartilage of the body can be brown colored.

27. 1Up Health > Alkaptonuria (Alcaptonuria, Homogentisic Acid Oxidase Deficiency, O
    Comprehesive information on alkaptonuria (Alcaptonuria, Homogentisic acid oxidasedeficiency, Ochronosis). Diseases Conditions . alkaptonuria Information.  
    http://www.1uphealth.com/health/alkaptonuria.html
    
    Extractions: 1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Alkaptonuria Information Guide Alternative names : Alcaptonuria, Homogentisic acid oxidase deficiency, Ochronosis Definition : Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

28. Alkaptonuria From Pediatrics / Genetics And Metabolic Disease
    Background alkaptonuria was one of 4 disorders originally defined as an inbornerror of metabolism by Archibald Garrod in his Croonian Lectures of 1902.  
    http://author.emedicine.com/ped/topic64.htm
    
    Extractions: AUTHOR INFORMATION Section 1 of 11 Authored by Karl S Roth, MD , Chief, Divisions of Genetics, Endocrinology, and Metabolism, Professor, Department of Pediatrics, Virginia Commonwealth University and Medical College of Virginia Karl S Roth, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Pediatrics American Association for the Advancement of Science American College of Nutrition ... Sigma Xi , Society for Pediatric Research, and Southern Society for Pediatric Research Edited by James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Leonard G Feld, MD, PhD , Chairman, Department of Pediatrics, Atlantic Health System, Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey;

29. Alkaptonuria Information Page Diseases Database
    alkaptonuria Information Page. alkaptonuria aka/or Homogentisate 1,2dioxygenasedeficiency aka/or Homogentisic acid oxidase deficiency aka/or Ochronosis  
    http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=409

30. NEJM Natural History Of Alkaptonuria
    Original Article from The New England Journal ofMedicine Natural History of alkaptonuria.  
    http://content.nejm.org/cgi/content/abstract/347/26/2111

31. NEJM Alkaptonuria
    This Week in the Journal from The New England Journal of Medicine alkaptonuria. December 26, 2002 alkaptonuria. alkaptonuria  
    http://content.nejm.org/cgi/content-tweek/full/347/26/2093-b

32. NORD - National Organization For Rare Disorders, Inc.
    alkaptonuria. Researchers at the National Institutes of Child Health and Human Developmentat the NIH seek people with alkaptonuria to take part in a new study.  
    http://www.rarediseases.org/nord/research/alka
    
    Extractions: Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research Alkaptonuria Researchers at the National Institutes of Child Health and Human Development at the NIH seek people with alkaptonuria to take part in a new study. Alkaptonuria is a rare genetic disease seen in all population groups, with a slight concentration in people of Czech or Dominican descent. The disease damages several systems in the body, and is characterized by painful joints (especially hip and spine), discoloration of the ear, dark spots in the whites of the eye, and dark color of bone. There is currently no treatment or cure. Study results should improve the understanding of the disease. There is no charge to patients who take part. For more information about this National Institutes of Health (NIH) study, go to

33. NORD - National Organization For Rare Disorders, Inc.
    alkaptonuria. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright1984, 1985, 1987, 1989, 1992, 1999, 2000, 2003 Synonyms of alkaptonuria  
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alkaptonuria

34. University Of Miami School Of Medicine - Glossary - Alkaptonuria (Ochronosis)
    Diseases and Conditions. alkaptonuria (Ochronosis). alkaptonuria (Ochronosis). alkaptonuriaAt A Glance. alkaptonuria is a rare inherited (genetic) disorder.  
    http://www.med.miami.edu/patients/glossary/art.asp?articlekey=7804

35. Alkaptonuria
    Support Groups@ (3). alkaptonuria and Ochronosis Notebook Notebookof information plus a hotline for messages and support. Help  
    http://www.foundhealth.com/Health/Conditions_and_Diseases/A/Alkaptonuria/
    
    Extractions: Advertisement Foundhealth.com Search All Terms Any Term Tips Browse foundhealth.com Health calculators Fast Food Database Speakers Bureau How to evaluate sites Submit a site Contact us Home - main directory Top Health Conditions and Diseases A : Alkaptonuria Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the Open Directory made available on foundhealth.com have been modified. Home Health Tools Fast Food Database Vitamins and Minerals ... The content provided on this web site is for information purposes only. It is intended to provide educational material and is not designed to provide medical advice. Please consult your health care provider regarding any medical issues you have relating to symptoms, conditions, diseases, diagnosis, treatments and side- effects. Terms and conditions.

36. Ochronosis Is The Muscoskeletal Manifestation Of Alkaptonuria
    1. Introduction. Ochronosis is the muscoskeletal manifestation ofalkaptonuria. Figure 1 Biochemical disorder of alkaptonuria.  
    http://www.orthoweb.be/cases/ochronosis.htm

37. Short Description Of Cell Lines. Pathology: Alkaptonuria *203500
    Version 4.200205, Short description of cell lines. Pathology alkaptonuria*203500 OMIM record. By selecting the cell line name, you  
    http://www.biotech.ist.unige.it/cldb/pat43.html

38. The Molecular Basis Of Alkaptonuria.
    alkaptonuria Ochronosis.  
    http://www.mgh.harvard.edu/depts/dermpath/Unkowns/ochronosis.htm

39. The Molecular Basis Of Alkaptonuria
    The molecular basis of alkaptonuria. alkaptonuria is a rare metabolic disorderresulting from loss of homogentisate 1,2 dioxygenase (HGO) activity.  
    http://www.mgh.harvard.edu/depts/dermpath/Unkowns/alkaptonuria.html
    
    Extractions: The molecular basis of alkaptonuria. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S Nat Genet 1996 Sep;14(1):19-24 Alkaptonuria (AKU) occupies a unique place in the history of human genetics because it was the first disease to be interpreted as a mendelian recessive trait by Garrod in 1902. Alkaptonuria is a rare metabolic disorder resulting from loss of homogentisate 1,2 dioxygenase (HGO) activity. Affected individuals accumulate large quantities of homogentisic acid, an intermediary product of the catabolism of tyrosine and phenylalanine, which darkens the urine and deposits in connective tissues causing a debilitating arthritis. Here we report the cloning of the human HGO gene and establish that it is the AKU gene. We show that HGO maps to the same location described for AKU, illustrate that HGO harbours missense mutations that cosegregate with the disease, and provide biochemical evidence that at least one of these missense mutations is a loss-of-function mutation. Clinical triad: dark urine, dark skin, arthritis

40. Alkaptonuria Articles, Support Groups, And Resources
    alkaptonuria articles, support groups, and resources for patients from Med HelpInternational (www.medhelp.org). alkaptonuria. Medical Glossary alkaptonuria.  
    http://www.medhelp.org/HealthTopics/Alkaptonuria.html

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