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Urea Cycle Disorders:     more detail

Urea cycle disorders: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Julianne Remington, 2005 Congenital disorders of the urea cycle and ammonia detoxication (Monographs in paediatrics) by Jean Pierre Colombo, 1971 The Pediatrician's Guide to Ornithine Transcarbamylase Deficiency . . . and other Urea Cycle Disorders (The National Organization for Rare Disorders, NORD Guides for Physicians #2) by The National Organization for Rare Disorders, 1999 Inherited disorders of the urea cycle by George K Summer, 1973 CONGENIAL DISORDERS OF THE UREA CYCLE AND AMMONIA DETOXICATION( Monographs in Pediatrics) by J.P. Colombo, 1971 Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I by Jean-Pierre Colombo, 1971-01-01 Urea Cycle Diseases (Advances in Experimental Medicine & Biology)

lists with details

21. Florida State University College Of Medicine Digital Library
    urea cycle disorders Patient/Family Resources. Miscellaneous. Miscellaneous UreaCycle Disorders Patient/Family Resources Healthfinder (US DHHS) Homepage  
    http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/aminoacid/urea.htm
    
    Extractions: Patient/Family Resources by Topic: Metabolic Disorders Urea Cycle Disorders Patient/Family Resources Spanish Miscellaneous See also: MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Urea Cycle Disorders Patient/Family Resources National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases

22. Florida State University College Of Medicine Digital Library
    Clinical Resources by Topic Metabolic Disorders.urea cycle disorders Clinical Resources.  
    http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/urea.htm
    
    Extractions: Clinical Resources by Topic: Metabolic Disorders Urea Cycle Disorders Clinical Resources Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also: Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult): Table of contents Medical Library subscription INFO Goldman: Cecil Textbook of Medicine 21st Ed.-2000 (MD Consult): Table of contents Medical Library subscription INFO Other MD Consult Reference Books: Table of contents Medical Library subscription INFO Neurology (eMedicine): Table of contents Pediatrics Resources See also

23. Urea Cycle Disorders (blood + Urine)
    urea cycle disorders (blood + urine). Sample type Li/Heparin blood+ random urine A Li/Heparin sample should also be sent ON ICE  
    http://www.exeterhospitals.co.uk/pathology/exepath/indexu/ureacyc.htm
    
    Extractions: A Li/Heparin sample should also be sent ON ICE to the laboratory for measurement of ammonia. Minimum sample volume : 5 ml blood + 10 ml urine Reference ranges : An interpretative comment will be provided on the report form. Other information : These investigations are performed at a Regional Assay Centre (BLSM). Department responsible for analysis C linical Chemistry (by special arrangement only). Help Index

24. Health Library - Urea Cycle Disorders
    urea cycle disorders. Self Help Clearinghouse. National Urea CycleDisorders Foundation. National network. Founded 1989  
    http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29u

25. Health Library - Urea Cycle Disorders
    urea cycle disorders. Self Help Clearinghouse. National Urea CycleDisorders Foundation. National network. Founded 1989  
    http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29ure

26. Health Library - Urea Cycle Disorders
    Saint Luke's Health System eLibrary. urea cycle disorders. Self Help Clearinghouse.National urea cycle disorders Foundation. National network.  
    http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

27. CCHS Clinical Digital Library
    Clinical Resources by Topic Metabolic Disorders.urea cycle disorders Clinical Resources.  
    http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/urea.htm
    
    Extractions: Clinical Resources by Topic: Metabolic Disorders Urea Cycle Disorders Clinical Resources Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also: Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult): Table of contents Health Sciences Library subscription INFO Goldman: Cecil Textbook of Medicine 21st Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Other MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO Neurology (eMedicine): Table of contents Pediatrics Resources

28. CCHS Clinical Digital Library
    Patient/Family Resources; urea cycle disorders Clinical Resources;urea cycle disorders Patient/Family Resources; Ureteral Calculi  
    http://cchs-dl.slis.ua.edu/alpha-index/aa-alpha-individ/u-page.htm

29. ANOMALIES DU CYCLE DE L'UREE - UREA CYCLE DISORDERS
    Translate this page Brusilow SW, Maestri NE. urea cycle disorders diagnosis, pathophysiology, and therapy.Adv Pediatr. 43 127-170. The urea cycle disorders Conference Group.  
    http://www.pediatrie.be/JPP.htm
    
    Extractions: M.C. NASSOGNE , G. TOUATI, B. HERON, D. RABIER, J.M. SAUDUBRAY. Introduction N Tableau chronique. Tableau neurologique Tableau psychiatrique : Tableau aigu Discussion Bibliographie LEONARD JV. Urea cycle defects. In: Fernandes J, Saudubray JM, van den Berghe G (eds) Inborn metabolic diseases. Springer. Berlin. 2000 pp . In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp Brusilow SW, Maestri NE. Urea cycle disorders : diagnosis, pathophysiology, and therapy. Adv Pediatr. 1996. The Urea Cycle Disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr. 2001. Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med. 1980. 14 : 1316- Dimagno EP, Lowe JE, Snodgrass PJ, Jones JD. Ornithine transcarbamylase deficiency : a cause of bizarre behavior in a man. N Engl J Med. 1986. 315 : 744-747. Drogari E, Leonard JV. Late-onset ornithine transcarbamylase deficiency in males. Arch Dis Child 1988. 63 : 1363-1367.

30. National Urea Cycle Disorders Foundation
    geneticalliance.org. Return to Search Page National urea cycle disordersFoundation. 4841 Hill Street La Canada, CA 910112332 Phone 818.790  
    http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Nation

31. National Urea Cycle Disorders Foundation
    geneticalliance.org. Return to Search Page National urea cycle disordersFoundation. 4841 Hill Street La Canada, CA 91011 Phone 818  
    http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Nati

32. Urea Cycle Management
    urea cycle disorders Background Rebecca S. Wappner urea cycle disordersare estimated to occur in 1 in 30,000 live births. All are inherited  
    http://www.meadjohnson.com/metabolics/ureacycle.html
    
    Extractions: Riley Hospital for Children, Indianapolis, IN The urea cycle consists of a series of enzymatic reactions that convert ammonia, released during protein catabolism, into urea. Urea, or waste nitrogen, is then excreted in the urine. Defects in the urea cycle result in the accumulation of ammonia and its precursor amino acids, i.e. glutamine, glutamic acid, aspartic acid, and glycine. Elevated plasma levels of ammonia are highly neurotoxic in humans. Urea cycle disorders are estimated to occur in 1 in 30,000 live births. All are inherited as autosomal recessive traits with the exception of ornithine transcarbamylase (OTC) deficiency, which is inherited as an X-linked trait. Families of patients with urea cycle disorders should receive genetic counseling, as carrier detection and prenatal diagnosis are available for most disorders. Patients most often present during the neonatal period with a rapidly progressive neurologic deterioration that starts after a 1-2 day period of apparent normalcy. As ammonia levels increase, affected patients develop poor feeding, anorexia, behavioral changes, irritability, vomiting, lethargy, ataxia, seizures, coma, cerebral edema, and ultimately circulatory collapse. Less severe forms may present at any age, even in adulthood, with intermittent symptoms of hyperammonemia, behavioral problems, or neurologic dysfunction.

33. Health Library - Urea Cycle Disorders
    Topics. urea cycle disorders. Self Help Clearinghouse. National UreaCycle Disorders Foundation. National network. Founded  
    http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc

34. How Are Urea Cycle Disorders Treated?
    How are urea cycle disorders treated? Diet. Some people with urea cycle disordersneed to take medication to help rid their bodies of excess ammonia.  
    http://www.vanhosp.bc.ca/html/wellness_amdc_findout_urea_howare.html
    
    Extractions: How are Urea Cycle disorders treated? Diet Knowing how the urea cycle works will help you to understand the treatment better. The first part of treatment is reducing protein in the diet . If less protein is taken in, there is less ammonia for the urea cycle to remove. Protein in the diet is lowered by avoiding protein-rich foods like meat and milk. Examples of low protein foods are fruits, vegetables and starches. These foods provide calories without loading the body with protein. Calories are a very important part of the diet. The body can use them for fuel without breaking down its own reserves. If the body does not have adequate fuel in the form of calories, it will actually begin to break down muscle to provide energy. Muscle is protein and will increase ammonia levels in the same way as eating protein will. The metabolic dietician works with people to make adjustments to diet to ensure that it is providing adequate calories and nutrients. Medications Some people with urea cycle disorders need to take medication to help rid their bodies of excess ammonia.

35. How Do People Get Urea Cycle Disorders?
    How do People Get urea cycle disorders? urea cycle disorders are genetic. Thesefour urea cycle disorders affect boys and girls equally.  
    http://www.vanhosp.bc.ca/html/wellness_amdc_findout_urea_howdo.html
    
    Extractions: How do People Get Urea Cycle Disorders? Urea cycle disorders are genetic. This means that the person has the disorder from the time they are conceived. At conception, a baby receives two sets of genetic material, one from the mother and one from the father. This genetic material, called DNA , acts as a recipe for the baby's development. DNA includes information about the baby's eye and hair colour, sex, and even whether the baby will be right or left-handed. DNA comes in units called genes . Each pair of genes gives directions to a certain part of the body. Genes also give instructions on how the body breaks down protein. If the gene gives the wrong instructions, protein will not be broken down properly in the body. The first four urea cycle disorders on the list above are caused by getting two copies of the faulty gene, one from the mother and one from the father. If the child inherits only one copy of the gene, they are a

36. Health Library - Urea Cycle Disorders
    FREE. urea cycle disorders. Self Help Clearinghouse. National UreaCycle Disorders Foundation. National network. Founded  
    http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

37. Health Library
    Urea Cycle Disorder Discussion Boardurea cycle disorders. urea cycle disorders.Urologic Disease Helpline. US TOO International, Inc.-Prostate Problems.  
    http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/_SearchResults.asp

38. Library: Transplanted To Resolve A Urea-cycle Enzyme-deficiency - TRUEKids.ORG
    Hepatology abstract. Liver transplantation in urea cycle disorders. Eur. Longtermcorrection of urea cycle disorders. Journal of Pediatrics abstract.  
    http://www.geocities.com/paulajoe123/library.html
    
    Extractions: [Discussion Board] [Sign Guest Book] [View Guest Book] [True Links] ... [Calendar] [Library] [True Stories] [Home] Welcome to the True Kids Library If you know of a source which should be included in this library please e-mail me Indications for Liver Transplantation in Children United Network for Organ Sharing Policy 3.6 Appendix 3B scroll down to urea cycle defects section Liver transplantation for urea cycle enzyme deficiency Hepatology abstract Liver transplantation in urea cycle disorders Eur. Journal of Pediatrics abstract obtaining copy of article is advised Long-term correction of urea cycle disorders Journal of Pediatrics abstract Liver transplantation is a very promising therapy for the liver-based metabolic disorders (e.g., late onset citrullinemia). Rinsho Shinkeigaku Living-related liver transplantation for type II (late onset) citrullinemia using a graft from heterozygote donor Transplantation 2001 Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency Journal of Pediatrics abstract An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency (e.g., when

39. Welcome To UCDKids Net!
    UCD Kids Net. Internet Support for Families Coping with urea cycle disorders.If you are new to urea cycle disorders you should first visit join the.  
    http://www.geocities.com/ucdkidsnet/
    
    Extractions: UCD Kids Net Internet Support for Families Coping with Urea Cycle Disorders National Urea Cycle Disorders Foundation UCD Kids Net is not affiliated with NUCDF UCD Kids Net Discussion Boards UCD Kids Net Sites Kidd's 2Endure.com Promoting Urea Cycle Disorder Awareness ASA Kids Argininosuccinic Aciduria Support Group C Kids Citrullinemia Support Group T.R.U.E. Kids Transplanted to Resolve a Urea-cycle Enzyme-deficiency Support Group Hosted by: Colleen Potts UCD Adults COMING SOON To send comments or suggestions to UCD Kids Net . . . e-mail info@ucdkids.net

40. Child Development And Rehabilitation Center At OHSU
    CDRC Home Clinical Programs at CDRC - Metabolic Clinic - Available Materials- urea cycle disorders urea cycle disorders. Nutritional Information.  
    http://cdrc.ohsu.edu/home/Clinical_Programs_at_CDRC/Metabolic_Clinic/Available_M

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