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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

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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
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

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

Extractions: Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference 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. 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.
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
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
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

Extractions: 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. A single amino-acid substitution can have very severe effects but it may be unimportant if it is outside critical regions of functional importance.
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
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
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
(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
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

Extractions: 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
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
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
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

Extractions: Protocol Number: 00-HG-0141 Clinical, Biochemical, and Molecular Investigations into Alkaptonuria 00-HG-0141 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.
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

Extractions: 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
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

Extractions: 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.
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
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

Extractions: 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.

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