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         Tyrosinemia:     more detail
  1. Tyrosinemia
  2. Palmoplantar Keratodermas: Papillon-lefèvre Syndrome, Palmoplantar Keratoderma, Meleda Disease, Tyrosinemia Type Ii, Howel-evans Syndrome
  3. Tyrosinemia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
  4. Tyrosinemia: Webster's Timeline History, 1967 - 2007 by Icon Group International, 2010-06-11
  5. Dietary management of inherited metabolic disease: Phenylketonuria, galactosemia, tyrosinemia, homocystinuria, maple syrup urine disease by Phyllis B Acosta, 1976

41. Health Library: All Topics: T: Tyrosinemia - Healthfinder®
healthfinder® home page, healthfinder® — your guide to reliable healthinformation. health library. just for you. health care. organizations.
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=881

42. Health Library: All Topics: T: Tyrosinemia - Healthfinder®
home health library all topics T tyrosinemia. categories and relatedtopics. find a specific kind of information on tyrosinemia
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=881&refine=1

43. Tyrosinemia
tyrosinemia. tyrosinemia Reaching out and connecting tyrosinemia familiesthroughout the world .. Purpose tyrosinemia. tyrosinemia-11 -
http://www.health-nexus.org/tyrosinemia.htm
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tyrosinemia Reaching out and connecting Tyrosinemia families throughout the world..... Purpose: To allow a forum for families to share experiences and tips for management of tyrosinemia.
tyrosinemia-11 ... liver and renal functions are not affected. in Tyrosinemia-I, the damage is not done by the build-up of tyrosine but by ...
Tyrosinemia Management Tyrosinemia: Background C. Ronald ... of Medicine Seattle, WA Tyrosinemia-I is a rare but devastating ... six months of age. If tyrosinemia-I is unrecognized and ... before 10 years of age. Tyrosinemia is inherited as an autosomal ...
CLA - Tyrosinemia cd3. This site is hosted by Netfirms Web Hosting. Alagille's Syndrome. Neonatal Hepatitis. Biliary Atresia. Nutrition and the Liver. Galactosemia. Type I Glycogen Storage Disease. Gilbert's...

44. TYROSINEMIA
tyrosinemia, Welcome! For more information on tyrosinemia check outthe tyrosinemia Community at .. http//communities.msn
http://www.geocities.com/tyriii/tyrosinemia_page.html
TYROSINEMIA Welcome!
For more information on tyrosinemia check out the Tyrosinemia Community at .......
http://communities.msn.com/tyrosinemia/home.htm
thanks!! My Favorite Links: Tyrosinemia chat page http://communities.msn.com/tyrosinemiacommunitychat Tyrosinemia community http://communities.msn.com/tyrosinemia/home.htm My Info: Name: tyriii Email: tyriii@yahoo.com

45. TIROSINEMIA
Translate this page Bibliografía. Bergeron P, Laberge C, Grenier A. Hereditary tyrosinemia in the provinceof Quebec prevalence at birth and geographic distribution. Clin Genet.
http://www.geocities.com/rodriguezlanza/marl2.htm
TIROSINEMIA Dr. Manuel A. Rodriguez Lanza Residente del postgrado de Pediatría,
Hospital Militar "Dr. Carlos Arvelo", Departamento de Pediatría
e-mail: marl1@hotmail.com Palabras claves: tirosinemia, errores innatos del metabolismo. Key Words: tyrosinemia, inborn errors of metabolism La tirosinemia es un error innato del metabolismo que muestra niveles elevados de tirosina. Existen tres tipos: tirosinemia neonatal tirosinemia tipo I (tirosinosis) tirosinemia tipo II (sindrome de Richner-Hanhart) Incidencia Tirosinemia tipo I: En USA: en 1991: 1/47000 nacidos vivos. En Canada: en Quebec:1/12500 en Lac-St Jean de Quebec: 1/685 En Suecia: En Noruega: En Bélgica: Tirosinemia tipo II No ha sido bien establecida. Genética Localización cromosómica:
  • Fumarilacetoacetasa hidrolasa (FAH): 15q23-q25 (tirosinemia tipo I) Tirosina aminotransferasa (TAT): 16q22-q24 (tirosinemia tipo II)
Herencia: Autosómico recesivo. Varones=Hembras. Variabilidad étnica y racial: Mayormente en raza blanca.

46. Child Development And Rehabilitation Center At OHSU
CDRC Home Clinical Programs at CDRC - Metabolic Clinic - Available Materials- tyrosinemia Urea Cycle Disorders. tyrosinemia. Acquiring Samples.
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47. MedWebPlus Web Site ID 8664
A free service to help you find health sciences information quickly and easily. PEDBASEtyrosinemiaI. http//www.icondata.com/health/pedbase/files/TYROSINE.HTM
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48. Mouse Models For The Human Disease Of Chronic Hereditary Tyrosinemia
Mouse models for the human disease of chronic hereditary tyrosinemia.ORNL researchers found that a nearby gene that is also knocked
http://www.eurekalert.org/features/doe/2001-06/drnl-mmf061802.php

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Mouse models for the human disease of chronic hereditary tyrosinemia
ORNL researchers found that a nearby gene that is also knocked out by irradiation causes chronic hereditary tyrosinemia in mice, a disease that also afflicts humans. Patients with this disease can develop a wide range of liver and kidney problems, as well as problems affecting the eye, the skin of the feet and hands, and the central nervous system. Using the powerful mutagen ENU to alter a single DNA base pair in this gene, ORNL biologists recently produced two mouse models that more closely mimic the gene mutation that causes chronic hereditary tyrosinemia in humans. Normal mice and people metabolize tyrosine, an amino acid available in food, to make melanin, a type of pigment produced in large amounts by dark-skinned people. But people and mice with the disease lack a normally functioning protein (enzyme) to carry out one step of the tyrosine metabolism process, which involves a series of enzymes. So, unless people with this disease are put on a special tyrosine-free diet, a substance that is not broken down because of the absence of a normally functioning enzyme will build up to toxic levels in the liver and kidneys, a fatal condition in mice. By sequencing the same chromosomal region from both normal and abnormal mice and comparing the sequences, ORNL biologists identified new mouse models that carry mutations in this enzyme in the tyrosine breakdown pathway. "Mice with this disease die of poisoned livers," says ORNL biologist Dabney Johnson. "A by-product of the botched metabolism process is succinyl acetone, which accumulates in the liver and is excreted in urine where it serves as a diagnostic indicator of the disease.

49. 1Up Health > Health Links Directory > Conditions And Diseases: Rare Disorders: T
Conditions and Diseases Rare Disorders tyrosinemia . Sites. National Libraryof Medicine The synonyms of tyrosinemia 11, a summary and major features.
http://www.1uphealth.com/links/rare-disorders-tyrosinemia.html
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Sites National Library of Medicine The synonyms of Tyrosinemia 11, a summary and major features. NORD - Tyrosinemia, Hereditary Offers the synonyms, a general discussion and further resources. Pediatric Database Offers a definition of Tyrosinemia-1, the epidemiology, pathogenesis, clinical features, investigations and management. Tyrosinemia For all people interested in connecting with others with this disease. Tyrosinemia-11 An in depth look at this disease from Pediatric Database including investigations and management. Tyrosinemia Group Information about tyrosinemia, a rare metabolic disorder. Includes lists of links to other support groups, sources for low protein food, recipes, message board. Help build the largest human-edited directory on the web.

50. 1Up Health > Health Links Directory >Conditions And Diseases:Rare Disorders:Tyro
1UpHealth Health Directory Conditions_and_Diseases Rare_Disorderstyrosinemia A rare genetic metabolic disorder characterized
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... Tyrosinemia A rare genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine.
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51. FDA Approves Orfadin (Nitisinone) For Hereditary Tyrosinemia Type 1
Title FDA Approves Orfadin (Nitisinone) For Hereditary tyrosinemia Type 1 URLhttp//www.pslgroup.com/dg/21301E.htm Doctor's Guide January 23, 2002.
http://www.docguide.com/dg.nsf/PrintPrint/3808C5836588C3C085256B4A005135F2
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Title: FDA Approves Orfadin (Nitisinone) For Hereditary Tyrosinemia Type 1
URL: http://www.pslgroup.com/dg/21301E.htm
Doctor's Guide
January 23, 2002
BETHESDA, MD January 23, 2002 The U.S. Food and Drug Administration (FDA) approved a new drug yesterday, nitisinone capsules, to treat hereditary tyrosinemia type 1 (HT-1), a rare pediatric disease causing progressive liver failure and liver cancer in young children.
Fewer than 100 children in the United States are affected by HT-1. Nitisinone, which will be marketed under the name Orfadin, is an orphan drug. Orphan products are developed to treat rare diseases, or conditions that affect fewer than 200,000 people in the U.S. The Orphan Drug Act provides a seven-year period of exclusive marketing to the first sponsor who obtains marketing approval for a designated orphan drug. Because of liver failure or liver cancer, children with hereditary tyrosinemia type I rarely survive into their twenties without a liver transplant. However, for children treated early enough with nitisinone, liver failure and liver cancer occur at much-reduced rates. Nitisinone was studied in more than 180 patients with a median age of nine months when therapy started. When the drug was combined with a restricted diet, the four-year survival rate of children under two months of age at the time of diagnosis was 88 percent. Historical data for children treated with dietary restrictions alone shows a survival rate of 29 percent for the same time period.

52. Allestra - Tyrosinemia
Search through websites about tyrosinemia on Allestra or if you have a website about tyrosinemia, submit it and have it live within 24 hours.
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53. Health Library - Tyrosinemia, Hereditary
FREE. tyrosinemia, Hereditary. jaundice). tyrosinemia type I may progressto more serious complications such as severe liver disease.
http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp

54. Health Library - Tyrosinemia
tyrosinemia. Self Help Clearinghouse. Groupe Aide Aux Enfants Tyrosinemiquesdu Quebec. Model. One group in Quebec. Founded 1989.Provides
http://www.billingsclinic.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29t

55. Short Description Of Cell Lines. Pathology Tyrosinemia, Type I *
Version 4.200103, Short description of cell lines. Pathology tyrosinemia,type I * 276700 OMIM record. By selecting the cell line
http://www.biotech.ist.unige.it/cldb/pat139.html

56. FDA Approves Orfadin For Hereditary Tyrosinemia Type 1
Vol 11, No 3 (March 2002). FDA Approves Orfadin for Hereditary tyrosinemiaType 1. ROCKVILLE, Maryland—The US Food and Drug Administration
http://www.intouchlive.com/journals/oncnews/n0203ff.htm
Vol 11, No 3 (March 2002)
FDA Approves Orfadin for Hereditary Tyrosinemia Type 1
ROCKVILLE, Maryland—The US Food and Drug Administration (FDA) has approved the orphan drug Orfadin (nitisinone capsules, Swedish Orphan International) for treating hereditary tyrosinemia type 1 (HT-1), a rare pediatric disease that causes progressive liver failure and liver cancer. In announcing its approval decision, the agency warned that only physicians experienced in treating the disease should prescribe Orfadin. Rare Diseases Therapeutics, Inc., of Nashville, Tennessee, is the drug’s US distributor. HT-1 results from the inhibition of an enzyme involved in an early step in the tyrosine catabolic pathway. The disorder is present at birth and manifests itself within weeks or months in the failure of the infant to thrive and by symptoms of hepatomegaly, edema, ascites, melena, and hemorrhagic diathesis. HT-1 is fatal in the first year of life without therapy, and treated patients rarely live into their 20s without a liver transplant. Fewer than 100 children in the United States have the disease. The agency acted after reviewing a study of more than 180 patients (median age, 9 months) treated with Orfadin and a diet that restricted intake of the amino acids tyrosine and phenylalanine. In that trial, children less than 2 months old at the time of diagnosis had a 4-year survival rate of 88%. Historical data on children treated with dietary restrictions alone puts the 4-year survival rate at 29%.

57. Neuropathy: Childhood
Nonprogressive; Death at 3 months in 1 patient. tyrosinemia l Fumarylacetoacetase; Chromosome 15q23-q25; Recessive Onset Neonatal Infantile;
http://www.neuro.wustl.edu/neuromuscular/time/child.html

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CHILDHOOD ONSET POLYNEUROPATHIES
See storage inclusions
Hereditary
Axonal or Neuronal Myelin disorders Acquired Immune Toxic Metabolic Other
STORAGE INCLUSIONS Type Disease Cellular localization Osmophilic
with periodicity

Bilbao
Metachromatic Leukodystrophy Schwann cell
Macrophage
Axon Fabry's Vascular Perineurial Schwann cell, non-myelinating Niemann-Pick, Type 1 All except axon Batten-Kufs Schwann cell Vascular Fibroblast Toxic (Lysosomal) Amiodarone Chloroquine Perhexiline Similar inclusions: Cockayne Nerve: Perineurial;

58. WebGuest - Open Directory Health Conditions And Diseases
the entire directory. Sites National Library of Medicine The synonyms of tyrosinemia11, a summary and major features.
http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Rare_Diso

59. Molecular Analysis Of The Pathologies Associated With Hereditary Tyrosinemia
Translate this page Alérion Molecular analysis of the pathologiesassociated with hereditary tyrosinemia.
http://www.ulaval.ca/vrr/rech/Proj/72121.html
Molecular analysis of the pathologies associated with hereditary Tyrosinemia
Description Domaine(s) de recherche Chercheur(s) Tranche(s) de financement Date de fin:
Demande de correction

60. Health Library - Tyrosinemia
Your Health. Search. tyrosinemia. Self Help Clearinghouse. Groupe Aide AuxEnfants Tyrosinemiques du Quebec. Model. One group in Quebec. Founded 1989.
http://yourhealth.stlukesonline.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=

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