61. Orthoguide.com Lesch-Nyhan Syndrome Search results for leschnyhan syndrome . NO MATCHES FOUND-Please select a different keyword or category OR. Search AltaVista for lesch-nyhan syndrome . http://www.mymedline.com/ortho/Lesch-Nyhan_Syndrome.php3

Search results for "Lesch-Nyhan Syndrome" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Lesch-Nyhan Syndrome' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

62. HealthGate Index Go Back. leschnyhan syndrome. Definition. lesch-nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. http://www.butler.org/body.cfm?id=125&chunkiid=22829

63. Nutritional And Metabolic Diseases CH). leschnyhan syndrome. Lesch-Nyhan Disease information. US). Genetics research on lesch-nyhan syndrome - Baylor College, TX (US). http://www.mic.ki.se/Diseases/C18.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Wolman Disease Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The Nutrition Navigator (rating guide) at Tufts University The USDA Nutrient Database for Standard Reference, rel 13 - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and

64. St.Francis Hospitals And Health Centers Health Information Education. Back to Index, leschnyhan syndrome. lesch-nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. http://www.stfrancishospitals.org/DesktopDefault.aspx?ID=22829&tabindex=3&tabid=

65. RFDI  Revue Francophone De La Déficience Intellectuelle Translate this page The lesch-nyhan syndrome Marjorie AUNOS, Caroline BERTHIAUME, Sophie MÉTHOT, Catherine PIDGEON. lesch-nyhan syndrome is a genetic http://www.rfdi.org/resume.asp?no=436

66. Ingenta: Article Summary -- Mutation Carrier Testing In Lesch-Nyhan Syndrome Fam Mutation Carrier Testing in leschnyhan syndrome Families HPRT Mutant Frequency and Mutation Analysis with Peripheral Blood T Lymphocytes Genetic Testing 1 http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://mal/

67. Lesch-Nyhan Syndrome » Medical Diagnosis Medical Diagnosis » L » leschnyhan syndrome. lesch-nyhan syndrome. lesch-nyhan syndrome. OVERVIEW An X-linked disease caused by http://www.medfamily.org/diagnosis/L/diagnosis-terms-Lesch_Nyhan_syndrome.phtml

Medical Diagnosis A B C ... Z Lesch-Nyhan syndrome Lesch-Nyhan syndrome OVERVIEW: An X-linked disease caused by a deficiency of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyl transferase, and characterized by physical and mental retardation, hyperuricemia, self-mutilation, and choreoathetosis. CAUSES: TREATMENT MISCELLANEOUS SYNONYMS: ICD-9-CM: 277.2 Lesch-Nyhan syndrome see images More Helpful Links Want to discuss this term? Visit our forum or our chat room SEE ALSO (Enter the keywords below into our search box or click on the link): n/a Total Medical Terms: Rate this site! 1 - Worst 10 - Best Joint Partnership with Care Earth SGU Community Solo Futbol TUMS-Ped ... Cheap Store We're still here, you rockin' with the best! Best View with 1024x768 screen and IE 5.0 Although the medFamily materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.

68. Health Topics Search healthcare information Advanced search leschnyhan syndrome. by Michelle Badash, MS. Definition. lesch-nyhan syndrome is a genetic disorder. http://www.legalpointer.com/healthtopics.php?&A=&I=&article=22829

69. HPRT1 ex. 1 (mutation described at genomic DNA level), leschnyhan syndrome, 1. 40 bp cd. 51 (mutation described at genomic DNA level), lesch-nyhan syndrome, 2. http://archive.uwcm.ac.uk/uwcm/mg/ns/7/119317.html

Gross deletions Coverage of mutations on this page is not comprehensive. Also, information marked as cDNA-based may not reflect the situation at the genomic level. We ask the scientific community to understand these interpretational problems and to help us by bringing any errors to our attention. Description Phenotype Reference 2969 bp nt -707 to 2262 incl. ex. 1 (mutation described at genomic DNA level) Lesch-Nyhan syndrome 40 bp cd. 51 (mutation described at genomic DNA level) Lesch-Nyhan syndrome 50 bp nt. 403 cd. 135 (mutation described at cDNA level) Lesch-Nyhan syndrome 74 bp I8E9-16 to I8E9+58 (mutation described at genomic DNA level) Lesch-Nyhan syndrome 7989 bp incl. ex. 6-9 (mutation described at genomic DNA level) Lesch-Nyhan syndrome entire gene (mutation described at genomic DNA level) Lesch-Nyhan syndrome ex. 1 (mutation described at cDNA level) Lesch-Nyhan syndrome ex. 1 (mutation described at cDNA level) Lesch-Nyhan syndrome ex. 1-3 (mutation described at cDNA level) Lesch-Nyhan syndrome ex. 1-9, entire gene

70. HPRT1 CS002669, 1, as, 2, AG, lesch-nyhan syndrome, 1. CS900254, 1, as, -2, AT, lesch-nyhan syndrome, 2. CS930829, 1, ds, +1, GA, lesch-nyhan syndrome, 3. http://archive.uwcm.ac.uk/uwcm/mg/ns/2/119317.html

Nucleotide substitutions (splicing) Accession Number IVS Donor/ Acceptor Relative location Substitution Phenotype Reference as A-G Lesch-Nyhan syndrome as A-T Lesch-Nyhan syndrome ds G-A Lesch-Nyhan syndrome ds G-T Lesch-Nyhan syndrome as G-A Lesch-Nyhan syndrome ds G-A Hyperuricaemia with neurologic symptoms as G-T Lesch-Nyhan syndrome as A-G Lesch-Nyhan syndrome as G-A Lesch-Nyhan syndrome ds G-T Lesch-Nyhan syndrome as G-A Lesch-Nyhan syndrome ds G-A Lesch-Nyhan syndrome ds A-G Hyperuricaemia ds G-A Lesch-Nyhan syndrome ds G-C Lesch-Nyhan syndrome as G-A Lesch-Nyhan syndrome as G-A Lesch-Nyhan syndrome as A-G Lesch-Nyhan syndrome as T-A Lesch-Nyhan syndrome as T-G Lesch-Nyhan syndrome ds G-A Lesch-Nyhan syndrome ds T-C Lesch-Nyhan syndrome ds G-A Lesch-Nyhan syndrome ds G-C Lesch-Nyhan syndrome as G-A Lesch-Nyhan syndrome as A-G Lesch-Nyhan syndrome ds A-G Lesch-Nyhan syndrome, female ds G-A Lesch-Nyhan syndrome ds G-T Lesch-Nyhan syndrome ds T-C Lesch-Nyhan syndrome ds T-G Lesch-Nyhan syndrome References 1 - Jinnah (2000) Mutat Res 2 - Gibbs (1990) Genomics ... Adv Exp Med Biol HGMD

71. HPRT1: Hypoxanthine Phosphoribosyltransferase 1 (Lesch-Nyhan Syndrome)(Protein C for resale. HPRT1 hypoxanthine phosphoribosyltransferase 1 (leschnyhan syndrome). Human recombinant protein (Wheat Germ). Catalog http://www.abnova.com.tw/Content/en/Product/ProdCata.asp?ID=H00003251-P01

72. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Lesch-Nyhan Syndrom Category leschnyhan syndrome. HOME ABOUT Search Login . Conditions and Diseases/Genetic Disorders/lesch-nyhan syndrome. Links http://www.pillsupplier.com/dir/871/

Category: Lesch-Nyhan Syndrome HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Lesch-Nyhan Syndrome Links: Baylor College of Medicine: Genetics Research [rate it] [review it] Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. Mylifepath [rate it] [review it] Lesch-Nyhan Syndrome, a definition, description, a look at the causes and symptoms, diagnosis, treatment, prognosis, prevention and further reading. NINDS: Lesch-Nyhan Syndrome [rate it] [review it] Information sheet compiled by the National Institute of Neurological Disorders and Stroke. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:40:41 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

73. Greater Lafayette Health Services, Inc. Health Information Education. Back to Index, leschnyhan syndrome. lesch-nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. http://www.glhsi.org/DesktopDefault.aspx?ID=22829&tabid=178

74. Lesch-Nyhan Syndrome: Deficiency Of HGPRT http://seqcore.brcf.med.umich.edu/mcb500/na/leschnyhan.html

75. Lesch-Nyhan Syndrome From Linkspider UK Health Directory Directory Topic leschnyhan syndrome assoicated to Health. Directory Tree Top Health Conditions and Diseases Genetic Disorders lesch-nyhan syndrome (). http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Lesch-Nyha

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Lesch-Nyhan Syndrome assoicated to Health Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Lesch-Nyhan Syndrome ( See Also: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases NINDS: Lesch-Nyhan Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.

76. Penn State Faculty Research Expertise Database (FRED) Faculty Research Expertise Database. leschnyhan syndrome. Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases, Lesch Nyhan Disease. Lesch Nyhan Syndrome, http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D007926

77. »»Reviews For Lesch-Nyhan Syndrome«« leschnyhan syndrome Reviews. Related Subjects Genetic_Disorders. Book reviews for lesch-nyhan syndrome sorted by average review score http://www.booksunderreview.com/Health/Conditions_and_Diseases/Genetic_Disorders

Lesch-Nyhan Syndrome Reviews Related Subjects: Book reviews for "Lesch-Nyhan Syndrome" sorted by average review score: Das Lesch-Nyhan Syndrom : die juvenile Gicht Author: Amazon base price: Average review score: No reviews found. Related Subjects: Search site for a Book Review Sort by: Rank Last Modified Date Title Path Reverse Sort

78. Lesch-nyhan00.html leschnyhan syndrome,. Preliminary Remarks. lesch-nyhan syndrome LNS, is comparatively rare condition in which afflicted persons http://www.indiana.edu/~pietsch/lesch-nyhan00.html

LESCH-NYHAN SYNDROME, Preliminary Remarks Lesch-Nyhan syndrome [LNS] , is comparatively rare condition in which afflicted persons are prone to severe self-mutilation (e.g. chewing off their lips and fingers). The syndrome (go here for general information) is a manifestation of a recessive, X-linked error of metabolism an enzyme deficiency of purine metabolism. In more recent years, LNS, has become the subject of both laboratory and clinical investigations. What follows are the hyperlinks to the results of searches of MEDLINE conducted at Indiana University, Bloomington, Indiana. The items were compiled by SilverPlatter and are presented with their generous cooperation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information go to the ShuffleBrain main menu web contact: pietsch@indiana.edu

79. Disease - Lesch-Nyhan Syndrome - Detroit, Michigan Back to main Health Information page Disease lesch-nyhan syndrome. Definition lesch-nyhan syndrome is an inheritable disorder that affects purine metabolism. http://www.henryfordhealth.org/12801.cfm

Health Encyclopedia Back to main Health Information page Disease - Lesch-Nyhan syndrome Definition: Lesch-Nyhan syndrome is an inheritable disorder that affects purine metabolism . This affects how the body uses RNA and DNA, the proteins that make up the genetic blueprint and determine which proteins are produced for use in cellular processes. Causes And Risk: Lesch-Nyhan syndrome is inherited as an X-linked trait , therefore the disease is seen only in males. It is characterized by increased blood and uric acid levels and by the absence of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGP). Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained. The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, renal dysfunction develops because of the excess uric acid levels. Prevention: Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. The carrier state of the mother may be determined by culture of skin fibroblasts. Half the fibroblasts will have normal levels of the HGP

80. Gene: [0Xq261/HPRT1] Hypoxanthine Phosphoribosyltransferase 1 (deficiency: Lesch Gene 0Xq261/HPRT1 hypoxanthine phosphoribosyltransferase 1 (deficiency leschnyhan syndrome); hypoxanthine guanine phosphoribosyltransferase 1 (deficiency http://obi.img.ras.ru/humbio/hugen/0xq261_hprt1.htm

Gene: [0Xq261/HPRT1] hypoxanthine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); hypoxanthine guanine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); Lesch-Nyhan syndrome (HPRT deficiency); FUN Systematic name: IMP:pyrophosphate phosphoribosyltransferase. Catalyzes reaction: IMP + pyrophosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate." FAG Another HPRT gene is reserved: GEM: PSG GEM: , GEM: , GEM: , GEM: REF KEY neu, mtbd, nucm CLA coding, basic LOC MIM MIM: 308000 EZN ENZYME: 2.4.2.8

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