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

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

ORPHANET database access Alkaptonuria Direct access to details Alias : Home Page

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

Metabolic pathway illustrated Browse backwards Browse forwards Menu Alkaptonuria Synonyms Alcaptonuria, Homogentisic aciduria McKusick No. 1. Physical 2. Neurological 3. Gastrointestinal 4. Renal Urine darkens on standing 5. Bone Arthritis, pigmentation of cartilage 6. Comment One of Garrod's originalInborn Errors of Metabolism. 7. Haematological 8. Biochemical Homogentisic acid in urine [Diagnostic]. Enzyme Homogentisate 1,2-dioxygenase EC number ................Diagnostics and therapy................ Treatment None yet available Carrier detection Prenatal diagnosis Expand periodical title abbreviations MBID (1989) Chapter 27 GBD (1985) p 198 This page last modified 11 Feb 1996. Pathway Webmaster, Oxford, UK

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

Home Health Conditions by Category ... Contact Us Alkaptonuria Health News Search millions of published articles for news on Alkaptonuria 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 Note: To access the full text of articles, sign up for a seven-day no-risk free trial subscription to eLibrary. Web Directory Subtopics: Support Groups Web Links: Alkaptonuria - A brief discussion about this disease and its statistics world wide. Followed by a case study of a 4 year old boy, whose parents noted the darkening of the urine to an almost black color when it was left standing. Alkaptonuria and Ochronosis - A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. Alkaptonuria and Ochronosis Notebook - Notebook of information plus a hotline for messages and support. eMedicine Online Text: Alkaptonuria - An in depth look at this disorder written by Karl S Roth, MD. From a description to treatment all aspects of this disease are discussed.

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

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. Causes, Incidence, and Risk Factors 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. Previous Next Jump to Another Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention Diagnosis, Signs, and Tests

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

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. Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Arthritis More Urinalysis More More Topics Autosomal recessive Enzyme Metabolism Sclera ... More Search 1Up Health 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). Home Contact Us Privacy Links Directory

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

eMedicine Journal Pediatrics Genetics And Metabolic Disease Alkaptonuria Synonyms, Key Words, and Related Terms: ochronosis Author Information Introduction Clinical Differentials ... Bibliography 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

Search NORD's Databases NORD maintains three searchable databases and an alphabetical index of disease names. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Organizational Database Find a support group or other source of help. Orphan Drug Designation Database Find out about new and experimental orphan products. Database Subscriptions Subscriptions provide complete access to NORD's databases at libraries, schools, universities, and hospitals. NORD's Washington Office 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/

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 Support Groups Alkaptonuria and Ochronosis Notebook - Notebook of information plus a hotline for messages and support. 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 ... foundhealth.com 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

Version Short description of cell lines. Pathology: alkaptonuria OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

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

Alkaptonuria - Ochronosis

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

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

[Health Topics A-Z] A B C D ... Z Alkaptonuria Medical Glossary: ALKAPTONURIA [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

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