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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

41. Untitled
    Treatment of Congenital urea cycle disorders with IV Sodium Benzoate Sodium Phenylacetate.PRINCIPAL INVESTIGATOR Robert D. Steiner, MD, (503) 4947859.  
    http://cdrc.ohsu.edu/home2/Clinical_Programs_at_CDRC/Metabolic_Clinic/Available_
    
    Extractions: PURPOSE You have been invited to participate in this research because you have been diagnosed with an enzyme deficiency that results in abnormal ammonia metabolism. Due to this enzyme deficiency, you may develop high levels of ammonia in the blood which causes severe toxicity including vomiting, tiredness and coma. Dr. Robert Steiner and other physicians, who are listed above as coinvestigators and who are on the staff of the Metabolic Clinic, are participating in a national collaborative research study with Ucyclyd Pharma Inc. to help determine how to best treat people with urea cycle disorders who develop very high ammonia levels. In the event of an acute crisis, we would use an intravenous (IV) dosage form of Sodium Benzoate and Sodium Phenyl acetate to lower the elevated ammonia levels rapidly.

42. 239: Phenotypic Correlation And Diagnosis Of Urea Cycle Disorders With Stable Is
    Program Nr 239 Phenotypic correlation and diagnosis of urea cycledisorders with stable isotope infusions. B. Lee 1 , H. Yu 2 , F  
    http://www.faseb.org/genetics/ashg99/f239.htm
    
    Extractions: Program Nr: 239 Phenotypic correlation and diagnosis of urea cycle disorders with stable isotope infusions. B. Lee , H. Yu , F. Jahoor , W. O'Brien , A.L. Beaudet , P. Reeds N-urea, O-urea, and N-glutamine enrichments measured in blood during intravenous co-infusions of 5- N-glutamine and O-urea. The ratio of N-urea/ N-urea/ N-glutamine ratio is a sensitive index of in vivo urea cycle activity, correlates with clinical everity and is a sensitive tool for evaluating efficacy of therapeutic modalities as well as for the diagnosis and management of urea cycle patients.

43. UASOM Main Digital Library
    urea cycle disorders Clinical Resources. Chapter 64 Inherited Metabolic Disordersof the Liver Access document Urea Cycle Defects Access document.  
    http://uasom-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 Lister Hill Library subscription INFO Goldman: Cecil Textbook of Medicine 21st Ed.-2000 (MD Consult): Table of contents Lister Hill Library subscription INFO Other MD Consult Reference Books: Table of contents Lister Hill Library subscription INFO Neurology (eMedicine): Table of contents Pediatrics Resources

44. MEDLINEplus Medical Encyclopedia: Hereditary Urea Cycle Abnormality
    Most patients with urea cycle disorders require hospitalization at somepoint in their illness. During such times, they may be treated  
    http://www.nlm.nih.gov/medlineplus/ency/article/000372.htm
    
    Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Male urinary system Urea cycle Alternative names Return to top Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Definition Return to top The urea cycle is a metabolic cycle involving incorporation of waste nitrogen from the breakdown of dietary proteins into a form (urea) that can be removed from the body. The liver makes urea from nitrogen waste, which is then excreted in the urine. Several hereditary conditions can cause this problem. These are genetic diseases caused by a the lack of a gene to make critical enzymes needed for the urea cycle. They include: Causes, incidence, and risk factors

45. MEDLINEplus: Metabolic Disorders
    (Scientific American, Inc.); What is a Urea Cycle Disorder? (Nationalurea cycle disorders Foundation); What Is NiemannPick Disease?  
    http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html
    
    Extractions: About Primary Hyperoxaluria (Oxalosis and Hyperoxaluria Foundation) Amyloidosis (Mayo Foundation for Medical Education and Research) Biotinidase Deficiency (Save Babies Through Screening) Carnitine Palitoyl Transferase Deficiency Type II (CPT-II) (Save Babies Through Screening) Citrullinemia (Save Babies Through Screening)

46. Health Library - Urea Cycle Disorders
    Search. urea cycle disorders. Self Help Clearinghouse. National UreaCycle Disorders Foundation. National network. Founded  
    http://www.stjosephhealth.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29u

47. Health Library - Urea Cycle Disorders
    Your Health. Search. urea cycle disorders. Self Help Clearinghouse. Nationalurea cycle disorders Foundation. National network.  
    http://yourhealth.stlukesonline.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=

48. Health Library - Urea Cycle Disorders
    Advanced Search. urea cycle disorders. Self Help Clearinghouse. Nationalurea cycle disorders Foundation. National network.  
    http://www.stjudemedicalcenter.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=s

49. Silver Hill Hospital Digital Library
    urea cycle disorders Patient/Family Resources. Miscellaneous Urea CycleDisorders Patient/Family Resources Healthfinder (US DHHS) Homepage  
    http://silverhillhospital-dl.slis.ua.edu/patientinfo/metabolism/inborn/aminoacid
    
    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

50. Silver Hill Hospital Digital Library
    urea cycle disorders Clinical Resources. Urea (Keyword search) List ofdocuments. Miscellaneous urea cycle disorders Clinical Resources  
    http://silverhillhospital-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/ur
    
    Extractions: Clinical Resources by Topic: Metabolic Disorders Urea Cycle Disorders Clinical Resources Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also: Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Pediatric Database (PEDBASE) List of documents Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Ornithine Transcarbamylase (OTC) Deficiency: Access document Ornithine Aminotransferase Deficiency: Access document Argininosuccinic Aciduria: Access document Carbamyl Phosphate Synthetase I (CPS-I) Deficiency:

51. Urea Cycle Disorders Clinical Resources
    urea cycle disorders Clinical Resources. Urea (Keyword search) List ofdocuments. Miscellaneous urea cycle disorders Clinical Resources  
    http://baptistnashville-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/urea
    
    Extractions: Clinical Resources by Topic: Metabolic Disorders Urea Cycle Disorders Clinical Resources Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also: Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Pediatric Database (PEDBASE) List of documents Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Ornithine Transcarbamylase (OTC) Deficiency: Access document Ornithine Aminotransferase Deficiency: Access document Argininosuccinic Aciduria: Access document Carbamyl Phosphate Synthetase I (CPS-I) Deficiency:

52. Nutritional And Metabolic Diseases
    Foundation (US). Urea Cycle Disorder (not on MeSH) The US Nat'l UreaCycle Disorders Foundation; Information on urea cycle disorders; TRUE  
    http://www.mic.ki.se/Diseases/c18.html

53. Adjunctive Therapy For Urea Cycle Disorders Licensed
    Return to PJ Online Home Page The Pharmaceutical Journal Vol 264 No 7096 p718May 13, 2000 Clinical. Adjunctive therapy for urea cycle disorders licensed.  
    http://www.pharmj.com/Editorial/20000513/clinical/adjunctivetherapy.html
    
    Extractions: May 13, 2000 Clinical Adjunctive therapy for urea cycle disorders licensed Sodium phenylbutyrate (Ammonaps) has been licensed as an "orphan drug" for adjunctive therapy in the chronic management of urea cycle disorders. These disorders are deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase or argininosuccinate synthetase. Sodium phenylbutyrate is indicated for all patients with neonatal onset presentation (complete enzyme deficiencies presenting within the first 28 days of life), and for patients with late onset disease (partial enzyme deficiencies, presenting after the first month of life) who have a history of hyperammanaemic encephalopathy. Orphan Europe, manufacturer of Ammonaps, says that, in the UK, around 18 babies are born with this condition each year. The company says that the urea cycle is a self-regenerating pathway or cycle by which all of the body's waste nitrogen is converted into urea for renal excretion. An enzyme defect in the cycle leads to a greatly reduced capacity of the cycle to metabolise waste nitrogen. This may lead to seizures, coma and death.

54. Urea Cycle : Meddie Health Search
    Mead Johnson urea cycle disorders An in depth article about this disease, startingwith an overview and introduction leading to screening and management.  
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Ur

55. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
    Study of Treatment and Metabolism in Patients With urea cycle disorders.This study is currently recruiting patients. Sponsored by  
    http://www.clinicaltrials.gov/ct/gui/show/NCT00004307?order=13

56. MSN Health -
    Arginino Succinase Type nord Urea Cycle Disorder, Citrullinemia Type nordUrea Cycle Disorder, OTC Type nord urea cycle disorders shc Urea Cycle  
    http://content.health.msn.com/content/healthwise/106/26297.htm

57. IXth International Congress Of Inborn Errors Of Metabolism
    ICIEM 2003 UCD Satellite Meeting New Developments in urea cycle disorders. Therole of liver transplantation in the urea cycle disorders J. Leonard.  
    http://www.iciem.org/ucd.htm
    
    Extractions: Home Page Online Registration Brisbane Tourism Congress Touring Options ... Organising Committees The organisers would like to thank our generous sponsors: Venue: Manly Pacific Hotel, Manly in Sydney. Duration: 1½ days, commencing with a Welcome Reception at 18:30 pm on Saturday 30th August and ending at 13:30 pm on Monday 1st September Organising Committee: Claude Bachmann, Mark Batshaw, Mendel Tuchman, Judith Hammond and Bridget Wilcken. This satellite symposium to the Brisbane ICIEM Congress will be held in beautiful Sydney by the Pacific Ocean at Manly. The conference will bring the most recent research findings in basic, translational and therapeutic investigations of urea cycle disorders. The meeting will consist of 14 invited lectures by international scientists, poster session and short presentation of abstracts and will allow for formal and informal discussions. The proceedings of the meeting will be published in Molecular Genetics and Metabolism Saturday

58. Health Library - Urea Cycle Disorders
    Events, SEARCH. urea cycle disorders. Self Help Clearinghouse. Nationalurea cycle disorders Foundation. National network. Founded  
    http://www.muskogeehealth.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29u

59. Ornithine Transcarbamylase Deficiency!
    deficiencies. urea cycle disorders are tragic illnesses that are characterizedby excessive amounts of ammonia in the blood. Without  
    http://www.aim4health.com/family/otc.htm
    
    Extractions: Ornithine Transcarbamylase Deficiency is part of a urea cycle disorder. A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle. The urea cycle involves a series of biochemical steps that takes place in the liver, in which nitrogen, a component of protein, is removed from the blood and converted into urea. There are five steps to the urea cycle, each of them requiring a specific enzyme. When one of these enzymes is missing, nitrogen accumulates and is converted into ammonia, a highly toxic substance, instead of urea. Ammonia reaches the brain through the blood, where it may cause irreversible brain damage and/or death. Ornithine transcarbamylase is one of these deficiencies. Urea cycle disorders are tragic illnesses that are characterized by excessive amounts of ammonia in the blood. Without treatment, these disorders can cause behavioral disorders, mental retardation, coma, or even death. What are the Symptoms?

60. BCM - Developmental Biology - Brendan Lee
    treatment. This is the focus of our gene replacement studies usinghelperdependent adenoviral vectors in urea cycle disorders. An  
    http://www.bcm.tmc.edu/db/db_fac-lee.html
    
    Extractions: Fellow, Baylor College of Medicine, Houston, TX, 1995-98 and In contrast to developmental pathways, much basic information is already available in well studied biochemical pathways that are critical for homeostasis, such as the urea cycle. With this already in hand, we have attempted to translate the basic information into stable isotope based metabolic protocols in urea cycle patients to develop new tools for diagnosis and clinical management. By using this unique human disease model and physiologic tools that measure the in vivo activity of this pathway, we are asking questions about the interaction of the urea cycle and other biochemical pathways that constitute key gene-nutrient interactions during postnatal growth and development. The ultimate goal is to translate information from these well studied pathways into treatment. This is the focus of our gene replacement studies using helper-dependent adenoviral vectors in urea cycle disorders. An integral component of this is work focused on understanding and preventing the host innate immune response and acute toxicity associated with adenovirus treatment. The spectrum of my research program extends from gene identification in human disease, to correlating mechanisms of disease with normal biological processes, to measuring and manipulating these pathways for diagnosis and treatment in humans and in animal models.

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