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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)

81. Pioneering Procedure Eases Child's Rare Blood Disorder
bloodstream much more quickly. Because urea cycle disorders so rarely occur, the innovative technique has only been used four times since.
http://www.mc.vanderbilt.edu/reporter/?ID=718

82. NetDoctor.co.uk - Information About Drugs For Patients
This action is useful in patients with urea cycle disorders. In urea cycle disorders, the conversion to urea cannot take place and ammonia accumulates.
http://www.netdoctor.co.uk/medicines/showpreparation.asp?id=4258

83. Disease Directory : What Is A Urea Cycle Disorder?
Diseases Genetic disorders urea cycle What is a urea cycle Disorder? Directory Listing. Title What is a urea cycle Disorder?
http://www.diseasedirectory.net/detailed/25781.aspx
Wednesday, June 02, 2004 Genetic Disorders
Aarskog Syndrome

Aase Syndrome

Ablepharon-Macrostomia Syndrome
... Urea Cycle : What is a Urea Cycle Disorder?
Directory Listing
Title: What is a Urea Cycle Disorder?
Description: What is a Urea Cycle Disorder? A urea cycle disorder is a genetic disease that affects how protein is broken down in the body. What is the Urea Cycle?
Date Added: 2/16/2004 7:19:45 PM
URL: http://www.vanhosp.bc.ca/html/wellness_amdc_findout_urea_whatis.html

84. Genetic Disorders, Urea Cycle
Category Home Health Conditions and Diseases Genetic disorders urea cycle. * Site Title · The name of the site. (eg, National Association of Health).
http://www.iseekhealth.com/directory/index.php?method=show_link_exchange&directo

85. TriButyrate® And Urea Cycle Disorder Research
INBORN ERRORS OF urea SYNTHESIS (urea cycle DISORDER). triButyrate® was originally developed in the mid 1980 s by triple crown america
http://www.tributyrate.com/html/urea_cycle_disorder.html
INBORN ERRORS OF UREA SYNTHESIS
(UREA CYCLE DISORDER) tri Butyrate triple crown america, inc
., at the request of Johns Hopkins Hospital as a treatment for inborn errors of Urea Synthesis/Urea Cycle Disorder. For this indication tri Butyrate
Inborn errors of Urea Synthesis are rare and belong to the larger group of disorders of amino acid metabolism, which are genetically determined and caused by enzyme defects. The most well known disorder in the larger group is phenylketonuria (PKU), characterized by an accumulation of the amino acid phenylalanine, which frequently results in mental and psychomotor retardation, if not treated.
The disorders of inborn errors of Urea Synthesis are less known, but are life threatening conditions associated with hyperammonemia or high plasma glutamine levels, often resulting in coma and death in infants, if not treated immediately. Non-Toxic
Since 1987 this compound, with generic name (Sodium) Phenylbutyrate, has been the treatment of choice for these diseases, recommended at a dosage of 450 to 500 mg/kg bodyweight per day. Approximately 1500 children worldwide are alive today and well because of

86. Urea Cycle Disorder
Home Up . Click Here! urea cycle Disorder. Click Here! Musice.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch
http://www.health-server.com/urea_cycle_disorder.htm
Home Up Urea Cycle Disorder
Music-e.net

Just-recipes.net

EnvyMag.com

Scholarships-4u.com
... Trimethylaminuria [ Urea Cycle Disorder ] Health By Category Health By Specialty Health Feedback Health Career Schools ... Submit A Health Site

87. Genetic And Rare Diseases Information Center - Office Of Rare Diseases
or email GARDinfo@nih.gov. Disease Inborn urea cycle disorder. This page is still under construction. New links are being added
http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=6775

88. Disease Descriptions
s. All the following diseases and conditions are currently detectable through newborn screening. this list of the disorders we advocate Click here. Unclassified Fatty Acid Oxidation disorders ( UFAOD) Very-Long-Chain - These disorders do not currently fit the Save Babies......Search Our Site! Disease
http://www.savebabies.org/diseasedescriptions.htm

89. Ureasyklin Sairaudet
Kehitysvammahuollon tietopankki. Ammoniakin kertyminen vereen. Ureasyklin sairaudet. Ureasyklin vauriot johtavat vaikeisiin sairauksiin
http://www.saunalahti.fi/kup/syndroma/ureasykl.htm
Kehitysvammahuollon tietopankki
Ammoniakin kertyminen vereen
Ureasyklin sairaudet
Ureasyklin vauriot johtavat vaikeisiin sairauksiin, joita luonnehtii ammoniakin kertyminen vereen. Tällaiset taudit voivat aiheuttaa häiriökäyttäytymistä, psyykkistä kehitysvammaisuutta, koomaa ja jopa ennenaikaisen kuoleman. Ureasykli on entsyymijärjestelmä, joka muuntaa aminohappoaineenvaihdunnan tuottaman ammoniakin virtsaksi. Ureasyklin entsyymejä on useita. Joihinkin perinnöllisiin sairauksiin liittyy niiden kemiallisen rakenteen muuttuminen. Ammoniakkikertymän muodostuminen myrkyttää verenkierron kautta mm. hermostoa.
Argininemia
Hyvin harvinainen Argininemia-sairaus - maailmassa tunnetaan vain muutakymmentä sairastunutta - aiheutuu 6. kromosomin arginase-nimisen geenin (6q23) vaurioitumisesta. Tauti on vallitsevasti periytyvä Argininemia ilmenee ensimmäisten elinkuukausien tai -vuosien aikana. Siihen kuuluu laaja oireisto, mm. lisääntyvä kömpelyys puhekyvyn menetys, vähitellen vaikeutuva kehitysvammaisuus ja pakkoliikkeitä sekä epileptisiä kohtauksia.

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