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         Urea Cycle Disorders:     more detail
  1. Urea cycle disorders: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Julianne Remington, 2005
  2. Congenital disorders of the urea cycle and ammonia detoxication (Monographs in paediatrics) by Jean Pierre Colombo, 1971
  3. 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
  4. Inherited disorders of the urea cycle by George K Summer, 1973
  5. CONGENIAL DISORDERS OF THE UREA CYCLE AND AMMONIA DETOXICATION( Monographs in Pediatrics) by J.P. Colombo, 1971
  6. Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I
  7. Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I by Jean-Pierre Colombo, 1971-01-01
  8. Urea Cycle Diseases (Advances in Experimental Medicine & Biology)

61. Entrez PubMed
Click here to read Laboratory evaluation of urea cycle disorders. Steiner RD, Cederbaum SD. Metabolic Clinic, Child Development
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

62. Entrez PubMed
Click here to read Liver transplantation in urea cycle disorders. Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

63. Mioti: Diseases + Conditions
not available. True Kids....... Search Mioti Gene Reviews urea cycle disorders Overview. National urea cycle disorders Foundation.
http://www.mioti.com/cat/condition/condition.asp?Cat=UreaCycleDisorder

64. Urea Cycle From Linkspider UK Health Directory
Directory Tree Top Health Conditions and Diseases Genetic Disorders Urea Cycle (). urea cycle disorders Information, medical links and a message board.
http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/UreaCycle/
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Directory Topic Urea Cycle assoicated to Health
Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Urea Cycle (
    Urea Cycle Disorders - Information, medical links and a message board. The true story of a one family's struggle with this illness.

65. Clinical Trial: Study Of Treatment And Metabolism In Patients With Urea Cycle Di
Study of Treatment and Metabolism in Patients With urea cycle disorders. This study is currently recruiting patients. Sponsored by.
http://www.clinicaltrials.gov/ct/show/NCT00004307?order=12

66. Rural Nurse Organization Clinic Digital Library
urea cycle disorders Clinical Resources. Urea (Keyword search) List of documents. Miscellaneous urea cycle disorders Clinical Resources
http://ruralnurseorganization-dl.slis.ua.edu/clinical/metabolism/inborn/aminoaci
Clinical Resources by Topic: Metabolic Disorders
Urea Cycle Disorders Clinical Resources
Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also:

67. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Urea Cycle
Links National urea cycle disorders Foundation rate it review it Information about the organization as well as the disease.
http://www.pillsupplier.com/dir/861/
Category: Urea Cycle
HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Urea Cycle
Links:
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

68. Silver Hill Hospital Digital Library
urea cycle disorders Clinical Resources. Urea (Keyword search) List of documents. Miscellaneous urea cycle disorders Clinical Resources
http://silverhillhospital-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/ur
Clinical Resources by Topic: Metabolic Disorders
Urea Cycle Disorders Clinical Resources
Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also:

69. Laran.waisman.wisc.edu/fv/www/lib_urea.htm
To Save Money on Urea Click Here for Urea Discount Sources. urea cycle disorders / Family Village National urea cycle disorders Foundation Home. About Us. What is a UCD? Family Support. Membership.
http://laran.waisman.wisc.edu/fv/www/lib_urea.htm

70. Health, Conditions And Diseases, Genetic Disorders: Urea Cycle
National urea cycle disorders Foundation Information about the organization as well as the disease. Family support, membership
http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Urea_Cyc
Top Health Conditions and Diseases Genetic Disorders ...
  • National Urea Cycle Disorders Foundation - Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information. Urea Cycle Disorders - Information, medical links and a message board. The true story of a one family's struggle with this illness.
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. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the Open Directory and has been modified and enhanced using our own technology. About ComboSE Download Combose Toolbar

71. Metabolic Dietary Disorders Association, Australia.
Australia. urea cycle disorders. urea cycle disorders come in six different forms, each named after the missing or deficient enzyme.
http://www.mdda-australia.org/whatis/UCD.shtm
Welcome to the Metabolic Dietary Disorders Association PO BOX 33 MONTROSE VIC 3765 Aust: 1800 288 460. Int: 613 9728 8460 Collated and co-written by Rachael Sharman, Vice President MDDA.
Co-written and edited by Dr Jim McGill, Director Metabolic Medicine, Royal Children's Hospital, Brisbane, Queensland, Australia.
Urea Cycle Disorders Urea cycle disorders come in six different forms, each named after the missing or deficient enzyme.
  • CPS - Carbamyl Phosphate Synthetase NAGS- N-Acetylglutamate Synthetase OTC - Ornithine Transcarbamylase ASD - Argininosuccinic Acid Synthetase (Citrullinemia) ALD - Argininosuccinase Acid Lyase (Argininosuccinic Aciduria) AG - Arginase
In normal protein metabolism, nitrogen (a waste product of protein metabolism) is converted to urea and removed from the body via urine. In these disorders, the deficiency of one of the above enzymes leads to a build up of nitrogen in the body, in the form of ammonia. High ammonia levels can cause brain damage or death. All except OTC are inherited as autosomal recessive traits (that is, both parents are carriers of the faulty gene and all their children have a one in four, or 25% chance of inheriting the condition). OTC is referred to as a sex-linked or X-linked trait, meaning the mothers are carriers. In this case, male offspring have a 50% chance of inheriting the disorder, female offspring will have a 50% chance of becoming carriers. Some female carriers may exhibit characteristics of the disorder, and can have problems after childbirth as there is so much protein breakdown as the uterus shrinks.

72. Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Urea Cycle
Onlye. Links URL hinzufügen. National urea cycle disorders Foundation Information about the organization as well as the disease.
http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Urea_Cycle/
Home Health Conditions and Diseases Genetic Disorders : Urea Cycle Search DMOZ-Verzeichnis:
All Categories Categories Onlye
Links:
  • National Urea Cycle Disorders Foundation
    Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information.
    http://www.nucdf.org/
  • Urea Cycle Disorders
    Information, medical links and a message board. The true story of a one family's struggle with this illness.
    http://www.2endure.com
© 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen œber Wauu Regeln Webmasterservice Impressum b

73. Disorders
FDA OKs Landmark Liver Drug. urea cycle disorders. urea cycle disorders are genetic disorders caused by a deficiency in one of the enzymes in the urea cycle.
http://www.pku-allieddisorders.org/allieddisorders.htm
  • Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders
All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site:
www.lowprotein.com

Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications.

74. Alexa Web Search - Subjects > Health > Conditions And Diseases > Genetic Disorde
Sort by Most Popular. National urea cycle disorders Foundation Information about the organization as well as the disease.
http://www.alexa.com/browse/general?catid=522575&mode=general

75. EMedicine - Hyperammonemia : Article Excerpt By: Kazi Imran Majeed, MD, FAAP
Sex All the urea cycle disorders are inherited in an autosomal recessive pattern, except ornithine transcarbamoylase (OTC) deficiency, wh ..
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

76. Mental Retardation, Directory
urea cycle disorders. ADENOSINE DEAMINASE; ADA, OMIM, Victor A. McKusick, Iosif W. Lurie et al. Directory Urea Cycle Disorder Urofacial Syndrome.
http://www.saunalahti.fi/kup/engl/webs_u.html
Finnish Information Center on Mental Retardation
English links
A B C D ... Z
Ubiquitin-Protein Ligase
Victor A. McKusick: Ubiquitin-Protein Ligase E3A; UBE3A (OMIM Database)
Angelman Syndrome (National Angelman Syndrome Foundation, USA)
Uniparental disomy
chromosome 14 uniparental disomy syndrome, U.S. National Library of Medicine
Support Groups for Chromosomal Conditions

Uniparental disomy, WEBSITE ON CHROMOSOMAL MOSAICISM
Urban-Rogers-Meyer Syndrome
PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY, OMIM Database
Urban-Rogers-Meyer syndrome, U.S. National Library of Medicine
Urea Cycle Disorders
ADENOSINE DEAMINASE; ADA, OMIM, Victor A. McKusick, Iosif W. Lurie et al.
Arginase Deficiency, eMedicine, Karl S Roth

Arginine Report, Vitaly Research Institute

Argininosuccinicaciduria, Orphanet, J-M. Saudubray
...
Yahoo! Directory Urea Cycle Disorder
Urofacial Syndrome
urofacial syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
UROFACIAL SYNDROME; UFS, OMIM, Victor A. McKusick

10q23-q24, UFS to 10q24, ABCC2, The OMIM Gene map
Ochoa Syndrome, NORD ... Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene, Wang CY et al, PubMed
Usher Syndrome
Usher syndrome (US), Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes, US NLM

77. Conditions And Diseases - Urea Cycle Top Links
Urea Cycle Web Site Links. urea cycle disorders Information, medical links and a message board. The true story of a one family s struggle with this illness.
http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
Sub Categories
Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health
Urea Cycle Web Site Links Urea Cycle Disorders Information, medical links and a message board. The true story of a one family's struggle with this illness.
National Urea Cycle Disorders Foundation
Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information.
Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research.
AHRQ: Clinical Information
Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse.
The UK Health Technology Assessment Programme
Site contains details of program's many projects and publications; an NHS national research and development initiative.
U.S. Preventive Services Task Force (USPSTF)
Panel of health care experts that evaluates the latest scientific evidence on clinical preventive services.
Controlled Trials from History
A historical examination of research methods designed to reduce biases in studies assessing the effects of health care, social care and education. Contains many images of historical items.

78. Children's National Medical Center Research
deficiencies. urea cycle disorders are tragic illnesses that are characterized by excessive amounts of ammonia in the blood. Without
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.

79. Canadian Directory Of Genetic Support Groups
Canadian Directory of Genetic Support Groups. urea cycle disorders. National Urea Cycle Foundation. National Coalition for PKU Allied Disorders.
http://www.lhsc.on.ca/programs/medgenet/urea_cyc.htm

Index by
support group Canadian Directory of Genetic Support Groups
Urea Cycle Disorders National Urea Cycle Foundation Page revised: March 9, 2004 Maintained by: Janice Little
Index by disease/ disorder

Return to Programs and Services Questions? Comments? Contact Janice Little London Health Sciences Centre . Please read our

80. GEMdatabase - Selected Title
TITLE urea cycle disorders Overview. DESCRIPTION This review focuses on the diagnosis, management, and genetic counseling of patients
http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=1015

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