61. Health Library - Alkaptonuria alkaptonuria. Synonyms report. Synonyms. Alcaptonuria (alternate spellingfor alkaptonuria); Alkaptonuric Ochronosis; Hereditary alkaptonuria; http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

62. Searchalot Directory For Alkaptonuria alkaptonuria and Ochronosis A detailed look at these disorders, how it affectsthe many body parts, diagnosis, diet and treatment are discussed. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Alka

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Alkaptonuria Support Groups Related Web Sites Alkaptonuria and Ochronosis - A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. 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. MedicineNet.com : Alkaptonuria - An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment. 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.

63. Medleksykon - Alkaptonuria alkaptonuria lub Ochronoza. alkaptonuria jest to rzadka wrodzona chorobao podlozu genetycznym, która charakteryzuje sie ciemnieniem http://kpjas.bis.czestochowa.pl/ee.php?n=605

64. Alkaptonuria Defects of Phenylalanine Metabolism alkaptonuria alkaptonuria is a metabolicdisease characterized by the accumulation of Homogentistic http://www.mun.ca/biology/scarr/Alkaptonuira.htm

Defects of Phenylalanine Metabolism: Alkaptonuria Alkaptonuria is a metabolic disease characterized by the accumulation of Homogentistic Acid (also known as Alkapton ) in the urine. Exposure of homogentisic acid to light results in darkening, thus producing the characteristic "black diaper" disease.

65. Welcome To ENH.org - Health Encyclopedia: Alkaptonuria alkaptonuria. Definition alkaptonuria is a rare inherited disorder of metabolismcharacterized by urine which turns black when exposed to air. http://www.enh.org/Encyclopedia/ency/article/001200.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Alkaptonuria Disease Injury Nutrition Poison ... Z 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. Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis 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. Symptoms: Infant/child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis , especially of the spine Darkening of the ear (from black staining of the cartilage in the ear) Dark spots on the sclera (white of the eye) and cornea Signs and tests: Urinalysis is positive for reducing substance. Further urine testing shows a positive ferric chloride test.

66. Health Library - Alkaptonuria Saint Luke's Health System eLibrary. alkaptonuria. Synonyms. Alcaptonuria (alternatespelling for alkaptonuria); Alkaptonuric Ochronosis; Hereditary alkaptonuria; http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

67. BCcomm: Health & Fitness/Conditions & Diseases/Genetic Disorders/Alkaptonuria Home » Health Fitness » Conditions Diseases » Genetic Disorders » alkaptonuria.SPONSORS. Advertise Here. 1 . alkaptonuria and Ochronosis Notebook. http://www.bccomm.net/dir/Health___Fitness/Conditions___Diseases/Genetic_Disorde

HOME REGISTER USER LINKS ... LOGIN entire directory this category ADVANCED SEARCH Home Genetic Disorders Alkaptonuria SPONSORS Advertise Here Sponsor This Category (Alkaptonuria) LINKS: My Links Reviews Details ... Alkaptonuria and Ochronosis Notebook Notebook of information plus a hotline for messages and support. URL: - http://www.goodnet.com/~ee72478/enable/AKU.htm Report As Bad Recommend it Review It Rate It! ... Submit Your Site Here ! Tue Mar 25 2003 Advertise About Us Contact Us Link to Us ... Help

68. Biochemical Genetics Sir Archibald Garrod. Garrod's concept of these disorders came mainlyfrom his studies on the rare disorder alkaptonuria. This is http://www.ucl.ac.uk/~ucbhjow/b241/biochemical.html

Biochemical genetics 1 It is obvious to us all that we all differ from one another, and that many of these differences ‘run in families’. Apart from identical twins people can readily be distinguished, from their facial features and many other attributes. This high level of individuality is reflected in our DNA. Both non-coding and coding DNA show a great deal of person to person variation. The existence of variation at a molecular and biochemical level has been known for nearly 100 years, that is long before the first human DNA sequences were read. Some of the early biochemical traits to be identified took more than 50 years to be elucidated at the level of the gene. In contrast more recently the gene defect in many genetic diseases has been elucidated by sequencing of DNA with no knowledge at all of the function of the protein product. Genetic variation in functional regions of the genome can fall into several different categories with respect to its effect on the individual and the frequency of the allele in the population. Variation in proteins A single amino-acid substitution can have very severe effects but it may be unimportant if it is outside critical regions of functional importance.

69. Health Library Find Information On Alkaptonuria At MerckSource Find information on alkaptonuria at MerckSource. Learn more about alkaptonuria,alkaptonuria alkaptonuria. Definition alkaptonuria is a rare inherited http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

70. Dorlands Medical Dictionary alkaptonuria (al·kap·ton·uria) (alkap²to-nu¢re-schwa) an autosomal recessiveaminoacidopathy characterized by accumulation of homogentisic acid (HGA http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

71. Medicine Online Medical Reference, Cosmetic Plastic Surgery, Bid For Rx, Medicat alkaptonuria (Ochronosis) alkaptonuria (Ochronosis) alkaptonuria is a rareinherited (genetic) disorder. The osteoarthritis. What is alkaptonuria? http://www.medicineonline.com/ReferanceDetails.asp?ArticleID=6815

72. (i) Alkaptonuria B. (i) (4 points) In humans the gene for rare biochemical disordercalled alkaptonuria (ak) is recessive to a normal (Ak). People http://www.mta.ca/~rthompso/exams/bio1201tt1,00/test1qub1.html

1:1 chance of a normal child but child is always a carrier of the trait go to question directory

73. Tropes Kevin Roth and Robert Schmidt, Washington University, St_louis, MO Some diseasesassociated with chromosome 3 mutations alkaptonuria Cornelia De_lange_syndrome http://freesense.free.fr/Diseases/d/0020.htm

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr3.shtml Human Chr 3 Pubmed Entrez BLAST OMIM Taxonomy Structure Search Genbank Genemap'99 Locuslink MEDLINE OMIM Unigene Maps dbsts for Human Genome Resources Select a Chromosome: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y Mapviewer Chr 3 Locuslink Chr. 3 Loci Unigene Chr. 3 Clusters Mouse Homologies for Human Chr. 3 Chromosome 3 Disease Genes Microscopic section of a tumor commonly found in patients with von Hippel-lindau_disease . Image: Kevin Roth and Robert Schmidt, Washington University, St_louis, MO Some diseases associated with chromosome 3 mutations Alkaptonuria Cornelia Precedent Suivant Tropes Web V1.0

74. MSN Health - alkaptonuria Important It is possible that the main title of thereport alkaptonuria is not the name you expected. Please check http://content.health.msn.com/NR/internal.asp?GUID={298CAEF4-5E7A-4EFF-B7C3-4FBB

75. Directory :: Look.com alkaptonuria (4) See Also. Health Sites. alkaptonuria A brief discussionabout this disease and its statistics world wide. Followed http://www.look.com/searchroute/directorysearch.asp?p=58523

76. Clinical Study: 00-HG-0141, Clinical, Biochemical, And Molecular Investigations Title Clinical, Biochemical, and Molecular Investigations into alkaptonuriaNumber 00HG-0141 Summary The purpose of this study is to gain a better http://clinicalstudies.info.nih.gov/detail/A_2000-HG-0141.html

Protocol Number: 00-HG-0141 Title: Clinical, Biochemical, and Molecular Investigations into Alkaptonuria Number: 00-HG-0141 Summary: The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some patients also develop kidney stones and heart valve problems. Alkaptonuria has not been studied for decades; and scientists expect to gain comprehensive clinical information using current medical techniques. Patients with alkaptonuria who are at least one month old may be eligible for this study. Participants will be evaluated at NIH's Clinical Center for 5 to 7 days every 1 to 2 years. They will have a medical history, physical examination, routine blood and urine tests. Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies. 24-hour urine collections will be done to measure organic acids and homogentisic acid excretion, assess overall kidney function, and evaluate bone metabolism. A total of 89.5 ml (about 6 tablespoons) of blood will be drawn for these studies in adults and 51 ml (about 3 tablespoons) in children. Patients will also have a skin biopsy (removal of a small piece of skin, done under local anesthetic), bone X-rays, kidney ultrasound, brain and chest computerized tomography (CT) scans, magnetic resonance imaging (MRI) scans of affected joints, electrocardiograms, echocardiogram, lung function tests, and a hearing test. Photographs of the face and full body (with underwear on) will be taken.

77. Health/Conditions_and_Diseases/Genetic_Disorders/Alkaptonuria information. / Health / Conditions_and_Diseases / Genetic_Disorders/ alkaptonuria. alkaptonuria and Ochronosis Notebook Notebook http://www.health-information-resource.com/Health/Conditions_and_Diseases/Geneti

Search: Welcome to the health-information-resource.com search portal. Health-information-resource.com is the premiere health and wellness search portal dedicated to providing comprehensive and up-to-date health information. Whether you are a healthcare professional or a healthcare consumer, you are likely to find health, wellness and medical-related information here that is informative and practical. Health-information-resource.com strives to provide the most thorough and reliable health information possible to ensure that every individual and family can better manage their health. Feel free to browse the health-focused directory or conduct a search for your specific wellness-related request. As a healthcare consumer today, you are faced with many important decisions regarding your physical condition. Choosing between hospitals, health care providers, doctors, prescriptions, vitamins, and a variety of other wellness-related choices can be extremely complicated. Finding a single resource that can provide you with all the answers to your health questions may seem like an unbearable task. However, health-information-resource.com can do just that. Our database is updated on a continuous basis with innovative and pertinent content, serving as your guide to reliable health information. Health Alkaptonuria Alkaptonuria and Ochronosis Notebook Notebook of information plus a hotline for messages and support.

78. Alkaptonuria Website Results :: Linkspider UK alkaptonuria Websites from the Linkspider UK. alkaptonuria Directory.Complete Results for alkaptonuria Related Topics. alkaptonuria http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Alkapt

Alkaptonuria Websites from Linkspider UK Keyword: Alkaptonuria Linkspider UK Directory Alkaptonuria Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Alkaptonuria (4) Add URL Advertise Here! Personalize Amazon ... Support Groups See Also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Alkaptonuria and Ochronosis - A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. 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. MedicineNet.com : Alkaptonuria - An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment. 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.

79. Homogentisic Acid (086405) CPT 81005 Synonyms alkaptonuria; Ferric Chloride, Urine Special Instructions Pleaseindicate any drugs patient has received Specimen Urine (random), frozen http://www.labcorp.com/datasets/labcorp/html/chapter/mono/ur000600.htm

Homogentisic Acid (086405) CPT Synonyms Alkaptonuria; Ferric Chloride, Urine Special Instructions Please indicate any drugs patient has received Specimen Urine (random), frozen Volume 10 mL Minimum Volume 1 mL Container Plastic urine container Collection To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested. Storage Instructions Freeze Causes for Rejection Improperly labeled specimen; urine with abnormal color; specimen not frozen Reference Interval Negative Use Evaluate presence of salicylates, phenothiazines, and ketone bodies; suggests the presence of a subset of inborn errors of metabolism, including phenylketonuria, tyrosinemia, MSUD, and alkaptonuria. Positive results should be followed up with more definitive testing. Limitations Urine with abnormal color will interfere with color development. This test is nonspecific. It will yield color reactions with several amino acid disorders, with other metabolites, and with drugs. Methodology Colorimetric

80. Alkaptonuria alkaptonuria. Definition alkaptonuria is a rare inherited disorder of metabolismcharacterized by urine which turns black when exposed to air. http://www.northarundel.com/ency/article/001200.htm

Disease Nutrition Surgery Symptoms Injury ... Z Related Programs at North Arundel Hospital Orthopaedic Services Home Medical Reference Encyclopedia (English) Toggle English Spanish Alkaptonuria Overview Symptoms Treatment Prevention 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. Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis 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. Review Date: 10/26/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 89    Back | 1  | 2  | 3  | 4  | 5  | Next 20