41. Clinical Trial: Study Of Treatment And Metabolism In Patients With Urea Cycle Di urea cycle disorders are inherited disorders caused by the lack of an enzyme that removes ammonia from the bloodstream. Gene therapy is treatment given to http://www.clinicaltrials.gov/show/NCT00004307

Home Search Browse Resources ... About Study of Treatment and Metabolism in Patients With Urea Cycle Disorders This study is currently recruiting patients. Verified by National Center for Research Resources (NCRR) December 2003 Sponsors and Collaborators: National Center for Research Resources (NCRR) Baylor College of Medicine Information provided by: National Center for Research Resources (NCRR) ClinicalTrials.gov Identifier: Purpose RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine . Urea cycle disorders are inherited disorders caused by the lack of an enzyme that removes ammonia from the bloodstream. Gene therapy is treatment given to change a gene so that it functions normally. Studying the treatment and metabolism of patients with urea cycle disorders may be helpful in developing new treatments for these disorders. PURPOSE: Two-part clinical trial to study the treatment and metabolism of patients who have urea cycle disorders. Condition Intervention Phase Amino Acid Metabolism, Inborn Errors

42. BioMed Central | Full Text | Urea Cycle Disorders To obtain access to Current Treatment Options in Neurology through your institution use the options below. If you would like information about a personal http://www.biomedcentral.com/1092-8480/5/309

home journals A-Z subject areas advanced search ... my BioMed Central To obtain access to Current Treatment Options in Neurology through your institution use the options below. If you would like information about a personal subscription, please contact subs@phl.cursci.com Click here to view an abstract of this article Click here to login if you are already a subscriber to Current Treatment Options in Neurology Subscribe to Current Treatment Options in Neurology Register for a free online trial Ask your librarian to investigate institutional access Athens users please click here to gain access If you believe you are seeing this page in error, or cannot activate your subscription, e-mail us info@biomedcentral.com Terms and Conditions Privacy statement Information for advertisers ... Contact us

43. BioMed Central | Abstract | Urea Cycle Disorders urea cycle disorders Soledad Kleppe MD, Asad Mian MD and Brendan Lee MD PhD urea cycle disorders comprise a group of inborn errors of metabolism that http://www.biomedcentral.com/1092-8480/5/309/abstract

home journals A-Z subject areas advanced search ... Issue 4 Viewing options Abstract Full text PDF Associated material: PubMed record Related literature: Articles citing this article on Google Scholar Other articles by authors Kleppe S ... Similar articles (PubMed) Tools: E-mail to a friend Download references Opinion Urea Cycle Disorders Soledad Kleppe MD Asad Mian MD and Brendan Lee MD PhD Department of Molecular and Human Genetics and Howard Hughes Medical Institute, One Baylor Plaza, Baylor College of Medicine, Houston, TX, 77030, USA Current Treatment Options in Neurology Published Abstract Urea cycle disorders comprise a group of inborn errors of metabolism that represent unique gene-nutrient interactions whose significant morbidity arises from acute and chronic neurotoxicity associated with often massive hyperammonemia. Current paradigms of treatment are focused on controlling the flux of nitrogen transfer through the hepatic urea cycle by a combination of dietary and pharmacologic approaches. Evolving paradigms include the development of cell and gene therapies. Current research is focused on understanding the pathophysiology of ammonia-mediated toxicity and prevention of neural injury. Terms and Conditions Privacy statement Information for advertisers Contact us

44. Hereditary Urea Cycle Abnormality NATIONAL urea cycle disorders FOUNDATION 4841 Hill Street; La Canada, CA 91011 If there is a family history of urea cycle disorder, seek genetic http://www.lifespan.org/ADAM/English/HIE/000372trt.htm

Careers at Lifespan Volunteer your time Other ways to give Lifespan's A - Z Health Information Library Injury Disease Nutrition Poison ... Prevention Hereditary urea cycle abnormality Alternative Names Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Treatment The mainstay of treatment of these disorders is PROTEIN RESTRICTION. As protein is the source of nitrogen-containing chemicals in the diet, limiting protein will limit the amount of nitrogen-wastes. This reduces the stress on the hampered urea cycle. It is imperative that protein restriction be done with guidance from a health care professional who can make certain to balance the amount of protein needed for growth with that which will cause symptoms. It is extremely important for people with these disorders to AVOID FASTING. Patients with urea cycle abnormalities must also be very careful under times of stress, such as infections. Stress, such as fever, can cause the body to break down its own proteins and exceed the capacity of the abnormal urea cycle to dispose of the by-products. A sick-day plan should be formulated with your doctor to avoid all protein, consume high carbohydrate drinks, and stay hydrated.

45. Untitled Document Leonard JV urea cycle disorders, in Fernandes J, Saudubray JM, Brusilow SW, Maestri NE urea cycle disorders Diagnosis, Pathophysiology and therapy. http://www.ijnephrol.com/janmar2005/33.htm

letter to editor Dialysis therapy for hyperammonemia L Patil*, HR Salkar**, SS Ghodeswar# Dept. of Medicine, Govt. Medical College, Nagpur Table - Causes of hyperammonemia Acquired disorders Liver failure : Infections ( acute / chronic ) Alcoholic cirrhosis Drug induced ( anti-convulsant ) Cirrhosis High-dose chemotherapy : Hematologic malignancy Bone marrow transplantation Severe infection/Urinary tract infection with congenital ureteric obstruction Transient hyperammonemia of the newborn Inherited disorders 1. Inborn errors of metabolism : a Urea cycle defects : Various Enzyme deficiency states Methyl malonic acidemia Systemic carnitine deficiency Fatty acid oxidation defects 2. Congenital defects associated with liver failure Biliary atresia Alpha 1 anti-trypsin deficiency Tyrosinemia Hereditary fructose intolerance References Brusilow S W, Maestri N E: Urea cycle disorders: Diagnosis, Pathophysiology and therapy. Adv Pediatr 1996; 43: 127

46. PHP : Resource Details National urea cycle disorders Foundation New Jersey organization dedicated to the identification, treatment and cure of urea cycle disorders. http://www.php.com/include/agency/agency_item.php?AgencyID=1834&where_keywords=

47. NORD - National Organization For Rare Disorders, Inc. The urea cycle disorders are a group of rare disorders affecting the urea cycle, National urea cycle disorders Foundation. 4841 Hill Street http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Citrullinemia

48. Geneticalliance.org National urea cycle disorders Foundation 4841 Hill Street La Canada, CA 91011 USA Phone 800.38.NUCDF Fax 818.952.2184 Website www.nucdf.org http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

49. Children's National Medical Center Research Ornithine Transcarbamylase Deficiency is part of a urea cycle disorder. urea cycle disorders are tragic illnesses that are characterized by excessive http://www.cnmcresearch.org/glossary.asp

Ornithine Transcarbamylase Deficiency (OTC) Multiple endocrine neoplasia type 1 (MEN1) Multiple endocrine neoplasia type 1 (MEN1) consists of benign, and sometimes malignant, tumors (often multiple in a tissue) of the parathyroids, enteropancreatic neuroendocrine system, anterior pituitary, and other tissues. Skin angiofibromas and skin collagenomas are common. Typically, MEN1 tumors begin two decades earlier than sporadic tumors. Because of tumor multiplicity and the tendency for postoperative tumor recurrence, specialized methods have been developed for preoperative and intraoperative localization of many MEN1-associated tumors. Hemochromatosis Hemochromatosis is an inherited disorder of the small intestine that causes a person to absorb too much iron from their food. Over time, iron builds to toxic levels and destroys many organs. Symptoms of toxic iron excess can differ greatly from person to person. Symptoms might include fatigue or depression, arthritis, impotence and infertility, diabetes, heart disease, and liver disease or liver cancer. Fortunately, early detection and treatment will prevent iron excess and its toxic effects. Duchenne Muscular Dystrophy (DMD) Duchenne muscular dystrophy is one of the most common and most devastating human genetic diseases. Affecting 1 in 3,500 live-born males, it is an X-linked recessive disorder which strikes all world populations equally. It shows a very high spontaneous mutation rate making most cases refractory to genetic screening. No therapies exist which are capable of slowing the lethal progression of the disease: boys first show overt weakness in early school years, show a steady loss of muscle tissue, are wheel-chair-bound by age 14 yrs., and succumb to respiratory failure by age 20 unless ventilated.

50. Children's National Medical Center Research The urea cycle disorders Conference Group Consensus statement from a conference for management of patients with urea cycle disorders. http://www.cnmcresearch.org/bios/MendelTuchman.aspx

Mendel Tuchman, M.D. Faculty Member Since Rank Mary Elizabeth McGehee Joyce Chair for Genetics Research Professor of Pediatrics, Biochemistry and Molecular Biology Training History: MD, Medicine, Sackler School of Medicine, Tel Aviv University Pediatric Residency, University of Minnesota Fellowship, Metabolism, University of Minnesota Previous Faculty Appointments Assistant Professor, Departments of Pediatrics and Laboratory Medicine, University of Minnesota, Associate Professor with tenure, Departments of Pediatrics and Laboratory Medicine University of Minnesota, Professor with tenure, Departments of Pediatrics and Laboratory Medicine University of Minnesota Research Interests Clinical biochemical and molecular bases of urea cycle defects Structure/function correlations of urea cycle proteins Therapy for hyperammonemia Abstract Of Current Project(s): Dr. Tuchman’s focus is to increase the understanding of structure-function relationships of the ornithine transcarbamylase enzyme (OTCase) and to develop innovative treatment approaches for this inborn error of urea synthesis that leads to brain damage and early death in childhood. Bacterial and mammalian cell expression systems are used to investigate the effects of naturally occurring mutations on the synthesis, processing and catalytic function of human OTCase.

51. Rare Pediatric Disease Database Longterm correction of urea cycle disorders. J Pediatrics. Alternative pathway therapy for urea cycle disorders twenty years later. http://www.madisonsfoundation.org/content/3/1/display.asp?did=387

52. Rare Pediatric Disease Database People with NAGS deficiency and other urea cycle disorders cannot convert and excrete ammonia. National urea cycle disorders Foundation NAGS deficiency http://www.madisonsfoundation.org/content/3/1/display.asp?did=462

53. The Health Library — Nutritional & Metabolic Understanding the BasicsNational urea cycle disorders Foundation urea cycle disordersMead Frequently Asked Questionsurea cycle disorders Consortium http://healthlibrary.stanford.edu/resources/internet/bodysystems/metabolic_rz.ht

Diseases and Disorders Nutrition: General Nutrition Dietary Recommendations Dietary Supplements Caffeine ... Water Balance Nutritional Disease: Malnutrition Obesity Metabolic Disease: General Metabolic Disease A-E F-G H-L ... R-Z Metabolic Diseases (R - Z) (Jump to: A B C D E F G H I J K L M N ... P Q R S T U V W X Y Z Refsum Disease Refsum Disease:NINDS Infantile Refsum Disease:NINDS Refsum Disease:United Leukodystrophy Foundation Genes and Disease: Refsum Disease:National Center for Biotechnology Information Reye's Syndrome Reye's Syndrome:NINDS Reye's Syndrome:Mayo Clinic What Is Reye's Syndrome?:National Reye's Foundation Treatment of Reye's Syndrome:National Reye's Foundation ... Reye Syndrome:MedlinePlus Sandhoff Disease Sandhoff Disease:NINDS Sandhoff Disease:Genetics Home Reference Sialic Acid Disorders Free Sialic Acid Storage Disease:Madisons Foundation Free Sialic Acid Storage Disorders:GeneReviews Sialuria:GeneReviews Tay-Sachs Disease Tay-Sachs Disease:NINDS Tay-Sachs Disease:March of Dimes Tay-Sachs Disease:Jewish Genetic Diseases Learning About Tay-Sachs Disease:National Human Genome Research Institute ... Tay-Sachs Disease:MedlinePlus Trimethylaminuria (Fish Odor Syndrome) Learning About Trimethylaminuria:National Human Genome Research Project What's That Smell?:Science News Online

54. EMedicine - Hyperammonemia : Article Excerpt By: Kazi Imran Majeed, MD, FAAP Synonyms, Key Words, and Related Terms urea cycle disorders, urea cycle enzyme Sex All the urea cycle disorders are inherited in an autosomal http://www.emedicine.com/neuro/byname/hyperammonemia.htm

(advertisement) Excerpt from Hyperammonemia Synonyms, Key Words, and Related Terms: urea cycle disorders, urea cycle enzyme deficiencies, hepatic encephalopathies, Reye syndrome, toxic encephalopathies, metabolic disorders, ornithine transcarbamoylase deficiency, OTC deficiency, N -acetylglutamate synthetase deficiency, NAGS deficiency, carbamoyl phosphate synthetase I deficiency, carbamyl phosphate synthetase I deficiency, CPS I deficiency, argininosuccinic acid synthetase deficiency, AS deficiency, argininosuccinic lyase deficiency, AL deficiency, arginase deficiency, isovaleric acidemia, propionic acidemia, methylmalonic acidemia, glutaric acidemia type II, multiple carboxylase deficiency, beta-ketothiolase deficiency, congenital lactic acidosis, pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, mitochondrial disorders, acyl CoA dehydrogenase deficiency, systemic carnitine deficiency, hyperammonemia-hyperornithinemia-homocitrullinuria, HHH Please click here to view the full topic text: Hyperammonemia Background: Ammonia is a normal constituent of all body fluids. At physiologic pH, it exists mainly as ammonium ion. Reference serum levels are less than 35

55. EMedicine - Hyperammonemia : Article By Karl S Roth, MD The combined incidence of urea cycle disorders has been estimated at Patients with urea cycle disorders may be alkalotic due to stimulation of the http://www.emedicine.com/PED/topic1057.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Hyperammonemia Last Updated: October 9, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: elevated serum ammonia, ammoniemia AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Karl S Roth, MD , Chair, Professor, Department of Pediatrics, Creighton University School of Medicine Karl S Roth, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Pediatrics American Association for the Advancement of Science American College of Nutrition ... Society for Pediatric Research , and Southern Society for Pediatric Research Editor(s): Robert D Steiner, MD Robert Konop, PharmD , Director of Drug Programs and Utilization; Leonard G Feld, MD, PhD , Chairman, Department of Pediatrics, Atlantic Health System, Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey;

56. Isolated Hepatocyte Transplantation In An Infant With A Severe Urea Cycle Disord urea cycle disorders appear to fulfill these criteria. Although other tissues (eg, gut and kidney) express some urea cycle enzymes, only the hepatocyte has http://pediatrics.aappublications.org/cgi/content/full/111/6/1262

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (27) PubMed PubMed Citation Articles by Horslen, S. P. Articles by Fox, I. J. Related Collections Genitourinary Tract PEDIATRICS Vol. 111 No. 6 June 2003, pp. 1262-1267 Isolated Hepatocyte Transplantation in an Infant With a Severe Urea Cycle Disorder Simon P. Horslen, MB, ChB, FRCPCH Timothy C. McCowan, MD Timothy C. Goertzen, MD Phyllis I. Warkentin, MD Hung Bo Cai, MD, PhD Stephen C. Strom, PhD and Ira J. Fox, MD Sections of Pediatric Gastroenterology, Surgery, Radiology, and Pathology, University of Nebraska Medical Center, Omaha, Nebraska Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania ABSTRACT TOP ABSTRACT INTRODUCTION CASE HISTORY METHODS RESULTS DISCUSSION CONCLUSIONS REFERENCES Objective.

57. Developmental Outcomes With Early Orthotopic Liver Transplantation For Infants W Liver transplantation for the treatment of urea cycle disorders. J Inherited Metab Dis. Liver transplantation in urea cycle disorders. Eur J Pediatr. http://pediatrics.aappublications.org/cgi/content/full/114/4/e523

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: PEDIATRICS Vol. 114 No. 4 October 2004, pp. e523-e526 (doi:10.1542/peds.2004-0198) This Article Abstract Full Text (PDF) P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by McBride, K. L. Articles by Lee, B. Related Collections ELECTRONIC ARTICLE Developmental Outcomes With Early Orthotopic Liver Transplantation for Infants With Neonatal-Onset Urea Cycle Defects and a Female Patient With Late-Onset Ornithine Transcarbamylase Deficiency Kim L. McBride, MD Geoffrey Miller, MD Susan Carter, BSN Saul Karpen, MD, PhD John Goss, MD and Brendan Lee, MD, PhD Molecular and Human Genetics Pediatrics Surgery Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas ABSTRACT TOP ABSTRACT METHODS RESULTS DISCUSSION REFERENCES Urea cycle defects (UCDs) typically present with hyperammonemia

58. Clinical Manifestations Of Inborn Errors Of The Urea Cycle And Related Metabolic Treatment of urea cycle disorders and related metabolic diseases consists of KEY WORDS • urea cycle disorders • hyperammonemia • carbamyl phosphate http://www.nutrition.org/cgi/content/abstract/134/6/1605S

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text 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 PubMed PubMed Citation Articles by Endo, F. Articles by Matsuda, I. The American Society for Nutritional Sciences J. Nutr. 134:1605S-1609S, June 2004 Supplement: 3rd Amino Acid Workshop Clinical Manifestations of Inborn Errors of the Urea Cycle and Related Metabolic Disorders during Childhood Fumio Endo Toshinobu Matsuura Kaede Yanagita and Ichiro Matsuda Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860, Japan To whom correspondence should be addressed. E-mail: Various disorders cause hyperammonemia during childhood. Among them are those caused by inherited defects in urea synthesis and related metabolic pathways. These disorders can be grouped into two types: disorders of the enzymes that comprise the urea cycle, and disorders of the transporters or metabolites of the

59. Clinical Manifestations Of Inborn Errors Of The Urea Cycle And Related Metabolic Treatment of urea cycle disorders and related metabolic diseases consists of In the urea cycle or in urea cycle–related disorders, clinical symptoms are http://www.nutrition.org/cgi/content/full/134/6/1605S

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract 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 PubMed PubMed Citation Articles by Endo, F. Articles by Matsuda, I. The American Society for Nutritional Sciences J. Nutr. 134:1605S-1609S, June 2004 Supplement: 3rd Amino Acid Workshop Clinical Manifestations of Inborn Errors of the Urea Cycle and Related Metabolic Disorders during Childhood Fumio Endo Toshinobu Matsuura Kaede Yanagita and Ichiro Matsuda Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860, Japan To whom correspondence should be addressed. E-mail: ABSTRACT TOP ABSTRACT LITERATURE CITED Various disorders cause hyperammonemia during childhood. Among them are those caused by inherited defects in urea synthesis and related metabolic pathways. These disorders can be grouped

60. Obstetrics & Gynecology -- Sign In Page BACKGROUND urea cycle disorders are relatively rare but CONCLUSION urea cycle disorders may present initially with postpartum psychiatric symptoms and http://www.greenjournal.org/cgi/content/full/105/5/1244

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Full Text Postpartum "Psychosis" in Mild Argininosuccinate Synthetase Deficiency Enns et al. Obstet Gynecol. This Article Abstract 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 PubMed PubMed Citation Articles by Enns, G. M. Articles by Pellegrino, J. E. Related Collections Genetics and teratology Medical complications of pregnancy Nutrition/metabolism Psychology/psychiatry To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$20.00

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