61. Rare Diseases Terms - Office Of Rare Diseases guanine phosphoribosyltransferase 1 deficiency. HPRT. HGPRT. Choreoathetosishyperuricemia. Information about leschnyhan syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=7226

62. Arquivos De Neuro-Psiquiatria - leschnyhan syndrome, an inborn error of purine metabolism, Here, we reportthe study of a lesch-nyhan syndrome family in which a new HPRT mutation was http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001

63. Purine Research Society leschnyhan syndrome. One of the better known diseases of purine metabolism The most unusual feature of lesch-nyhan syndrome is compulsive self-injury http://www.purineresearchsociety.org/

The Purine Research Society What We Learn About Metabolic Disease Will Benefit Each and Every One of Us The Purine Research Society was formed in 1986 by parents of children with Purine Autism (autistic children who excrete too much uric acid in their urine). Each family contributed a significant amount of money to fund M.D./Ph.D. researchers to find out why their children with autism were excreting excess uric acid, the end product of purines. Several researchers have studied the problem, and there continues to be significant progress. One of the accomplishments of the Society has been to produce a pamphlet explaining metabolic diseases in general and purine metabolic diseases in autism, as well as other diseases with excess uric acid, such as gout. WHY WE AREN'T WHAT WE EAT Every day of our lives, starting with the day we were born, we have been consuming food. We start with milk and gradually progress to cereals, fruits and vegetables, and meats. As we grow older, we may develop a preference for chocolate, salsa, or caviar. Indeed, the ability to satisfy our nutritional needs with a wide variety of foodstuffs is a distinct advantage. And yet, the skin, bones, hair, and muscle which make up our bodies are obviously very different from these foodstuffs. How is it that we are able to convert these foods into the materials which compose our bodies and use them to produce the energy we need to survive and function?

64. Protein Variations Associated With Lesch-Nyhan Syndrome -- Merril Et Al. 78 (10) Patients having leschnyhan syndrome were studied by using enzymatic, immunologic,and two-dimensional electrophoretic techniques. http://www.pnas.org/cgi/content/abstract/78/10/6471

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Download to citation manager PubMed PubMed Citation Articles by Merril, C. R. Articles by Ebert, M. October 1, 1981 Protein Variations Associated with Lesch-Nyhan Syndrome Carl R. Merril, David Goldman, and Michael Ebert Patients having Lesch-Nyhan syndrome were studied by using enzymatic, immunologic, and two-dimensional electrophoretic techniques. Four hundred proteins were analyzed on each two-dimensional electrophoretogram for positional or quantitative variation. In autoradiograms of lymphocytes stimulated with phytohemagglutinin, there were 11 quantitative differences found in all patients that were significant at the 2P < 0.01 level. A significant quantitative difference was also found in an analysis of silver-stained gels of unstimulated lymphocytes. Patients had trace amounts of erythrocyte hypoxanthine phosphoribosyl transferase (HPRT) activity and trace or no immunoprecipitable HPRT. However, HPRT was observed in silver-stained erythrocyte electrophoretograms and in autoradiograms from phytohemagglutinin-stimulated lymphocytes. Unstimulated lymphocytes contained 65% of the control HPRT concentration. Currently, the technology of two-dimensional electrophoresis detects a fraction of the total cellular proteins and defective proteins may not show electrophoretic alterations. However, specific secondary changes in other polypeptides may be observed and, when catalogued, will serve as an aid in the diagnosis and understanding of the pathophysiology of metabolic diseases.

65. Purine Requirement Of Cells Cultured From Humans Affected With Lesch-Nyhan Syndr Humans with the leschnyhan syndrome have an X-chromosomal mutant gene that causessevere neurological and developmental abnormalities. http://www.pnas.org/cgi/content/abstract/62/2/536

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Download to citation manager PubMed PubMed Citation Articles by Felix, J. S. Articles by DeMars, R. February 15, 1969 Purine Requirement of Cells Cultured from Humans Affected with Lesch-Nyhan Syndrome (Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency) Jeanette S. Felix and Robert DeMars Current Issue Archives Online Submission Info for Authors ... Site Map

66. HPRT1 CS002671, 2, as, +75, GA, leschnyhan syndrome, 1. CS002672, 2, ds, +1, GA,Hyperuricaemia with CS002678, 8, ds, +4, AG, lesch-nyhan syndrome, female, 1 http://www.hgmd.cf.ac.uk/ac/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

67. Lesch-Nyhan Syndrome --  Encyclopædia Britannica leschnyhan syndrome hereditary metabolic disorder affecting the central nervoussystem and characterized by incoordination, mental retardation, http://www.britannica.com/eb/article?tocId=9047900

68. COMOMUSIC.COM - Local Artists The leschnyhan syndrome Album Reviews No Album Reviews submitted yet! Upcoming Thelesch-nyhan syndrome Shows (next 30 days) http://www.comomusic.com/displaybands.php?bandid=586

69. MSN Encarta - Dictionary - Lesch-Nyhan Syndrome Print Preview. Search for LeschNy syndrome in all of MSN Encarta. Download theMSN Encarta Right-Click Dictionary. lesch-nyhan syndrome http://encarta.msn.com/dictionary_561537025/Lesch-Nyhan_syndrome.html

MSN Home My MSN Hotmail Shopping ... Sign In Web Search: Encarta Subscriber Sign In Help Home ... > > Click here to search all of MSN Encarta Dictionary Find in Click here to search all of MSN Encarta Dictionary Thesaurus Translations A B ... Print Preview Search for " Lesch-Ny... syndrome " in all of MSN Encarta Download the MSN Encarta Right-Click Dictionary Lesch-Nyhan syndrome Lesch-Ny·han syn·drome noun Definitions: serious genetic disease: a rare recessive enzyme-deficiency disorder of male children resulting in overproduction of uric acid. It causes early cerebral palsy, developmental disorders, gout, twitching body movements, and compulsive self-mutilation by biting. Mid-20th century. After Michael Lesch (b. 1939), U.S. cardiologist, and William Leo Nyhan (b. 1926), U.S. pediatrician More Links from Our Advertisers SAT Prep Distance Learning Education Online Tutoring ... Worldwide Advertisement document.write(' Also on Encarta Compare online degrees Train for a better career College life Encarta word of the day Our Partners Book bargains on MSN Shopping ClassesUSA.com: Compare online degrees

70. A Review Of Behavioral Treatments Used For Lesch-Nyhan Syndrome -- Olson And Hou leschnyhan syndrome is a genetic disorder resulting in hyperuricemia, choreoathetosis,mental retardation, and self-mutilation. The most salient feature of http://bmo.sagepub.com/cgi/content/abstract/24/2/202

JOURNAL HOME HELP CONTACT US SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Behavior Modification, Vol. 24, No. 2, 202-222 (2000) This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Reprints and Permissions PubMed PubMed Citation Articles by Olson, L. Articles by Houlihan, D. A Review of Behavioral Treatments Used for Lesch-Nyhan Syndrome Lynn Olson University of South Carolina Daniel Houlihan Mankato State University Lesch-Nyhan syndrome is a genetic disorder resulting in hyperuricemia, choreoathetosis, mental retardation, and self-mutilation. The most salient feature of this disorder is the self-injurious behavior (SIB). Although the utility of behavioral interventions with SIB has been well documented, behavioral interventions with Lesch-Nyhan syndrome have been limited in number and long-term success. This article reviews the behavioral treatments that

71. Penn State Faculty Research Expertise Database (FRED) , An inherited disorder transmitted as a sex-linkedtrait and caused by a deficiency of an enzyme of purine metabolism;......leschnyhan syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D007926

72. Geneticalliance.org leschnyhan syndrome Also known as Hypoxanthine Guanine Phosphoribosyl Transferase1 Deficiency (HPRT 1 Deficiency) Support Groups http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

73. RESEARCH BRIEF: COGNITIVE ABILITIES OF PATIENTS WITH LESCH-NYHAN SYNDROME referred to leschnyhan syndrome as an example of a condition so terrible in its The authors felt that this new interpretation of this syndrome was http://soeweb.syr.edu/thefci/1-2dra.htm

This article originally appeared in Vol. 1 No. 2 (Feb., 1993) of the Facilitated Communication Digest, [p. 10]. RESEARCH BRIEF: COGNITIVE ABILITIES OF PATIENTS WITH LESCH-NYHAN SYNDROME Review by Steve Drake Journal of Autism and Developmental Disorders, 22 Nat Hentoff, in his article "The Awful Privacy of Baby Doe", referred to Lesch-Nyhan syndrome as an example of a condition so terrible in its outcome that no one believes that extraordinary means should be used to extend the life of affected individuals. The syndrome, which affects only males, is characterized by severe motor impairment and compulsive self-injurious behavior. Individuals with Lesch-Nyhan have been thought to suffer from severe intellectual impairment. The study Realizing that descriptions of individuals with Lesch-Nyhan found in the literature are often at odds with the traditional diagnosis of mental retardation, researchers designed an alternative method for making inferences about their subjects' intellectual ability. The research team designed a 176-item questionnaire asking parents for wide-ranging information about their children. 51 of these questions were believed to relate to certain areas of cognitive functioning. These were broken down as follows: alertness and orientation; affect; abstract thinking and insight; memory; deductive-inductive reasoning and comprehension; use of language and communication; scholastic ability; social skills; parenting strategies and factors affecting self-injury.

74. The Family Village--Professionals & Providers Message Subject leschnyhan syndrome. Name Ayman. Letter/Comments. Hello We are aprivate support group of Lesch-Nyhan parents professionals in the USA, http://everard.waisman.wisc.edu/fv/po/show.asp?Board=Pro&ID=287

75. Production Of A Model For Lesch−Nyhan Syndrome In Hypoxanthine Phosphoribo leschnyhan syndrome molecular investigation of three French Canadian familiesusing a hypoxanthine-guanine phosphoribosyltransferase cDNA probe. Hum. http://www.nature.com/ng/journal/v3/n3/abs/ng0393-235.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0393-235 Chao-Liang Wu Institute of Cell and Molecular Biology, Edinburgh University, Mayfield Road, Edinburgh EH9 3JR, Scotland Correspondence should be addressed to D.W.M. REFERENCES Am. J. Med. Article PubMed ISI ChemPort Davidson, B.L. et al . Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Am. J. hum. Genet PubMed ISI ChemPort Yale ) responsible for Lesch-Nyhan syndrome. J. clin. Invest. PubMed ISI ChemPort in vitro amplified cDNA. Proc. natn. Acad. Sci. U.S.A. ChemPort J. inher. metab. Dis. PubMed ISI ChemPort Sinnett, D. et al . Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe. Hum. Genet.

76. The Dictionary Of Cell And Molecular Biology - Online! leschnyhan syndrome. A sex-linked recessive inherited disease in humans thatresults from mutation in the gene for the purine salvage enzyme HGPRT, http://www.mblab.gla.ac.uk/~julian/dict2.cgi?3614

77. MeSH-D Terms Associated To MeSH-C Term Lesch-Nyhan Syndrome MeSHD terms associated to MeSH-C term lesch-nyhan syndrome, G2D Home the strength of the association of the corresponding term to lesch-nyhan syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Lesch-Nyhan_Syndrome:unknown

78. Dr. Koop - Lesch-Nyhan Syndrome leschnyhan syndrome, Jul 29, 2005 Genetic counseling for prospective parentswith a family history of lesch-nyhan syndrome is recommended. http://www.drkoop.com/ency/93/001655prv.html

Home Health Reference Lesch-Nyhan syndrome Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Lesch-Nyhan syndrome Injury Disease Nutrition Poison ... Prevention Lesch-Nyhan syndrome 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 enzyme and the remaining half will have deficient or absent HGP. New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks

79. Dr. Koop - Lesch-Nyhan Syndrome family history of leschnyhan syndrome; male infant with delayed motor development;movement disorder; destructive chewing of fingers or lips http://www.drkoop.com/ency/93/001655sym.html

Home Health Reference Lesch-Nyhan syndrome Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Lesch-Nyhan syndrome Injury Disease Nutrition Poison ... Prevention Lesch-Nyhan syndrome Symptoms: family history of Lesch-Nyhan syndrome male infant with delayed motor development movement disorder destructive chewing of fingers or lips (self-destructive behavior) Signs and tests: A physical examination and testing may show: hyperreflexia spasticity choreoathetoid movements compulsive self-destructive behavior increased serum uric acid increase excretion of uric acid, urine decreased HGP levels in cultured fibroblasts Tests: serum chemistry, uric acid urine chemistry , uric acid skin biopsy tissue culture (fibroblasts) New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks

80. Lesch-Nyhan Syndrome leschnyhan syndrome is an inheritable disorder that affects purine . It affectshow the body handles the building and breakdown of purines one of the http://adam.about.com/encyclopedia/001655.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zCMt='a00' About Healthcare Center Healthcare Center Essentials ... Surgeries and Procedures zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Allergies Arthritis Asthma Breast Cancer ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Search Healthcare Center ENCYCLOPEDIA INDEX Injury Disease Nutrition Poison ... Z Lesch-Nyhan syndrome Overview Symptoms Treatment Prevention Definition: Lesch-Nyhan syndrome is an inheritable disorder that affects purine metabolism . It affects how the body handles the building and breakdown of purines one of the chemical units that make up RNA and DNA molecules. Causes, incidence, and risk factors: 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.

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 104    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20