61. Definition Of Tyrosinemia - WordReference.com Dictionary tyrosinemia Definition from dictionary. 1, tyrosinemia. autosomal recessivedefect in tyrosine metabolism resulting in liver and kidney disturbances and http://www.wordreference.com/definition/tyrosinemia

Word Reference .com tyrosinemia A noun tyrosinemia autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation Category Tree: state condition status unhealthiness ... disease tyrosinemia Need more information? Ask a question in the forum. Look up "tyrosinemia" at Merriam-Webster Look up "tyrosinemia" at dictionary.com English Definition Home Suggestions Search Tips See Also: Tyre tyro tyrocidin tyrocidine ... tyyn tyrosinemia: in French in Italian in Spanish

62. FDA Approves Orfadin (Nitisinone) For Hereditary Tyrosinemia Type 1 FDA Approves Orfadin (Nitisinone) For Hereditary tyrosinemia Type 1 BETHESDA,MD January 23, 2002 The US Food and Drug Administration (FDA) approved a http://www.pslgroup.com/dg/21301e.htm

63. NEJM -- Neurologic Crises In Hereditary Tyrosinemia Original Article from The New England Journal of Medicine Neurologic crisesin hereditary tyrosinemia. http://content.nejm.org/cgi/content/abstract/322/7/432

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 322:432-437 February 15, 1990 Number 7 Next Neurologic crises in hereditary tyrosinemia G Mitchell, J Larochelle, M Lambert, J Michaud, A Grenier, H Ogier, M Gauthier, J Lacroix, M Vanasse, A Larbrisseau, and et al. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information Department of Genetics, Hopital Sainte Justine, Montreal, PQ, Canada. This article has been cited by other articles: Grompe, M., St.-Louis, M., Demers, S. I., Al-Dhalimy, M., Leclerc, B., Tanguay, R. M. (1994). A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I. N Engl J Med [Abstract] [Full Text] Bateman, R. L., Bhanumoorthy, P., Witte, J. F., McClard, R. W., Grompe, M., Timm, D. E. (2001). Mechanistic Inferences from the Crystal Structure of Fumarylacetoacetate Hydrolase with a Bound Phosphorus-based Inhibitor. J. Biol. Chem.

64. NEJM -- Evidence For Liver Disease Preceding Amino Acid Abnormalities In Heredit In hereditary tyrosinemia, an autosomal recessive disorder of infants, it hasbeen postulated that hepatic toxicity arising from defective degradation of http://content.nejm.org/cgi/content/abstract/308/21/1265

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 308:1265-1267 May 26, 1983 Number 21 Next Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia MK Hostetter, HL Levy, HS Winter, GJ Knight, and JE Haddow Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract In hereditary tyrosinemia, an autosomal recessive disorder of infants, it has been postulated that hepatic toxicity arising from defective degradation of tyrosine accounts for the severe liver disease that is a feature of this condition. We measured the concentration of alpha-fetoprotein, a marker for liver disease, and of amino acid in cord blood from three infants with hereditary tyrosinemia and found that the concentration of alpha-fetoprotein was greatly increased at birth, whereas the level of tyrosine was normal or not specifically elevated, and that hypertyrosinemia developed only postnatally. These results indicate that liver disease is prenatal in hereditary tyrosinemia and that therapy aimed at reduction of the elevated tyrosine level is unlikely to be of fundamental value. HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Comments and questions? Please

65. Neuropathy: Childhood tyrosinemia l Fumarylacetoacetase ; Chromosome 15q23q25; Recessive. OnsetNeonatal Infantile; Systemic features. Hepatic disease; Renal Fanconi http://www.neuro.wustl.edu/neuromuscular/time/child.html

Front Search Index Links ... Patient Info CHILDHOOD ONSET POLYNEUROPATHIES See storage inclusions Hereditary Axonal or Neuronal Myelin disorders A-beta-lipoproteinemia Adrenomyeloneuropathy Andermann Syndrome ... Glycogenosis, Type 3 HMSN: II Infantile axonal + Respiratory failure Infantile Onset Spinocerebellar Ataxia (IOSCA) LCHADD ... Lethal neonatal Methylenetetrahydrofolate Reductase Mitochondrial MNGIE NARP Leigh ... Sensory Neuropathies Spinal muscular atrophy: Proximal Distal Tyrosinemia Carbohydrate-deficient glycoprotein ... Farber's lipogranulomatosis HMSN Dominant: CMT: IA IB III HNPP ... Thermosensitive Recessive: CMT: III 4D (LOM) HMSN-R CNS X-linked: IX Dejerine-Sottas Krabbe Metachromatic Leukodystrophy ... Thermosensitive Acquired Immune Toxic CIDP Acute motor axonal neuropathy (AMAN) Diphtheria ... Drugs Metabolic Other Diabetes Mellitus Vitamin B deficiency Carpal tunnel syndrome 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

66. Tyrosinemia Type I: A Clinico-laboratory Case Report,Karnik Deepali Indian Journal of Pediatrics is an open access http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2004;volume=71

67. Tyrosinemia Type I: A Clinico-laboratory Case Report Karnik Deepali, Thomas Nira Peerreviewed open access biomedical speciality periodical from India coveringvarious aspects of child health. http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2004;volume=71

68. Transient Tyrosinemia Of The Newborn: Dietary And Clinical Aspects -- Avery Et A This disorder, termed by us neonatal tyrosinemia, was first described by In a current survey of 15000 infants, mild tyrosinemia occurred during the http://pediatrics.aappublications.org/cgi/content/abstract/39/3/378

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when 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 Avery, M. E. Articles by Wasserman, B. P. Pediatrics, Mar 1967, 378-384, Vol 39, No. 3 Transient tyrosinemia of the newborn: dietary and clinical aspects ME Avery, CL Clow, JH Menkes, A Ramos, CR Scriver, L Stern and BP Wasserman The deBelle Laboratory for Biochemical Genetics, and the Premature Unit, at the Montreal Children's Hospital, Johns Hopkins Medical School, Baltimore A transient defect in tyrosine metabolism is a common aminoacidopathy in the premature and full-term human infant. This disorder, termed by us neonatal tyrosinemia, was first described by Levine and Gordon in 1939. In the intervening years other workers have studied this disorder, and have

69. Tyrosinemia Type 1 Should Be Suspected In Infants With Severe Coagulopathy Even tyrosinemia type l is an inherited metabolic disorder attributable to Key words coagulopathy, liver failure, tyrosinemia, alpha fetoprotein. http://pediatrics.aappublications.org/cgi/content/abstract/103/3/675

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text 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 Croffie, J. M. Articles by Fitzgerald, J. F. Related Collections PEDIATRICS Vol. 103 No. 3 March 1999, pp. 675-678 EXPERIENCE AND REASON: Tyrosinemia Type 1 Should Be Suspected in Infants With Severe Coagulopathy Even in the Absence of Other Signs of Liver Failure Received Apr 27, 1998; accepted Aug 17, 1998. Joseph M. Croffie Sandeep K. Gupta Sonny K. F. Chong and Joseph F. Fitzgerald Department of Pediatrics Indiana University School of Medicine Division of Gastroenterology/ Hepatology James Whitcomb Riley Hospital for Children Indianapolis, IN 46202-5225 Tyrosinemia type l is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. Affected individuals

70. Tyrosinemia Some tyrosinemia links. Look at these for the variety they represent. American LiverFoundation Children s Liver Alliance tyrosinemia links http://home.wlu.edu/~blackmerh/chem/tyro.html

71. TIROSINEMIA Translate this page Key Words tyrosinemia, inborn errors of metabolism Bergeron P, Laberge C,Grenier A. Hereditary tyrosinemia in the province of Quebec prevalence at http://www.geocities.com/HotSprings/Villa/1333/marl2.htm

TIROSINEMIA Dr. Manuel A. Rodríguez Lanza Revisión: 07/2005 Para buscar en este sitio 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 tipo I (tirosinosis) tirosinemia tipo II (sindrome de Richner-Hanhart) tirosinemia tipo III tirosinemia neonatal (puede ser cualquiera de las tres en edad neonatal) 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 y III No ha sido bien establecida. Genética Localización cromosómica: tipo Ia: fumarilacetoacetasa hidrolasa (FAH) gen 15q 23-25 tipo Ib: maleilacetoacetato isomerasa gen ? tipo II: Tirosina aminotransferasa (TAT): gen 16q22-q24 tipo III: enzima 4-hidroxifenilpiruvato dioxigenasa gen 12q24-qter Herencia: Autosómico recesivo. Varones=Hembras.

72. Tyrosinemia - St. Joseph Mercy, Ann Arbor Michigan tyrosinemia St. Joseph Mercy Health System Hospitals serving Ann Arbor, SEMichigan, Washtenaw County, Livingston County, Wayne County, Oakland County, http://www.sjmercyhealth.org/15991.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Tyrosinemia Groupe Aide Aux Enfants Tyrosinemiques du Quebec This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Groupe Aide Aux Enfants Tyrosinemiques du Quebec Model. One group in Quebec. Founded 1989. (Bilingual) Provides support and information for parents of children with tyrosinemia type I (aka alpha foetoprotein or hepatorenal type hereditary tyrosinemia). Pamphlets and diet book available in French; literature available in French and English. Networks on computer, and face-to-face meetings. WRITE: Groupe Aide Aux Enfants Tyrosinemiques du Quebec c/o Gerard Tremblay 3162, rue Granville

73. Liver Syndrome Tyrosinemia (Neonatal Tyrosinemia) tyrosinemia is an inborn metabolic disorder of the amino acid, tyrosine. There areseveral types; the most common of which is type 1, aka hereditary http://www.fairviewtransplant.org/liver/Tyrosinemia.asp

ABOUT HEART LUNG KIDNEY ... Pediatric Medical Director Fellowships Surgical Gastroenterology Clinical Trials The Transplant Center is a partnership of the following entities: Our liver transplant program is one of the world's oldest Liver Disorders Transplant Services Website Tyrosinemia (Neonatal tyrosinemia) Tyrosinemia is an inborn metabolic disorder of the amino acid, tyrosine. There are several types of tyrosinemia, the most common of which is type 1, also recognized as hereditary tyrosinemia or hepatorenal tyrosinemia. Type 1 is caused by a deficiency of fumarylacetoacetate hydrolase (FAH), a liver enzyme which breaks down tyrosine, resulting in increased levels of tyrosine in the blood and urine. Affecting major organs such as the kidney, liver and peripheral nerves, this condition is characterized by progressive liver failure and cirrhosis. Infants with type 1 may develop symptoms as early as two weeks of age or into the first year of life; symptoms include hypoglycemia, fever, hemorrhage, an enlarged liver, vomiting and a cabbage-like smell, signaling an acute hepatic crisis. Treatment includes a diet high in vitamin C and low in tyrosine and phenylalanine. In severe cases, a liver or kidney transplant is warranted.

74. Descriptions all children with tyrosinemia type I. There is no contraindication to immunizationbecause of tyrosinemia type I, but patients and physicians should be http://web1.tch.harvard.edu/newenglandconsortium/NBS/descriptions/tyro1.html

Tyrosinemia I Introduction Autosomal recessive Inheritance, deficiency of fumarylacetoacetase, Major sequelae of liver failure and hepatocellular carcinoma Clinical Features Neonatal Liver failure (usually well preserved transaminases however) jaundice ascites edema Renal tubular dysfunction vomiting diarrhea hypoglycemia sepsis and particularly bleeding Infancy/childhood Above plus Rickets failure to thrive hepatosplenomegaly neurological deficit hypotonia asymptomatic until developing hepatocellular carcinoma Consequence Cirrhosis, hepatocellular carcinoma Diagnosis Newborn screen Tandem mass spectrometry for * Confirmation Elevated urinary succinylacetone; also look for elevated urinary 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and d-ALA liver biopsy for assay of fumarylacetoacetase activity (though enzyme mosaicism may obscure the result).

75. Tyrosinemia tyrosinemia is an inborn error of metabolism associated with severe In theacute form of tyrosinemia, abnormalities appear in the first month of life. http://opbs.okstate.edu/~leach/Bioch5853/Minireviews/MR2.98 folder/KO.MR2.98/Min

Tyrosinemia Founding Fathers and Mothers Kenji Onodera Department of Biochemistry and Molecular biology, Oklahoma State University Here is an article from Natural History issued on June 1988 (1). Baby Pierre was born in Canada on March 7,1964, weighting a healthy six and three-quarter pounds. He fed very poorly from the start. So that he was hospitalized on September, but he gained only half a pound. He repeated vomiting, and his body are apparently weak, no muscle. Surprisingly, his urine always smelled of rotten cabbage. To keep him alive, the doctors decided to install a tube through his nose into his stomach. Once he gained weight by this treatment. On November 30, his condition suddenly changed, and he finally vomited blood and died. At the same time, Canadian physicians became increasingly aware of infants dying just like Baby Pierre. Most of patients of this disease were from the remote Chicoutimi area of Quebec Province, about 120 miles north from Quebec City. Their parents were all normal, but some of these parents lost three or four babies in this way. The patient was an equal number of boys and girls. All those facts indicated an inherited condition of the type known as an autosomal recessive disease (1, 2). It was hereditary tyrosinemia. Characteristics of tyrosinemia Statistics in Quebec, Canada

76. Health/Conditions And Diseases/Rare Disorders/Tyrosinemia -- The Doctors Lounge( Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Rare_Disorder

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites National Library of Medicine The synonyms of Tyrosinemia 11, a summary and major features. url: www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=ty... NORD: Tyrosinemia, Hereditary Offers the synonyms, a general discussion and further resources. url: www.rarediseases.org/search/rdbdetail_abstract.htm... Tyrosinemia For all people interested in connecting with others with this disease. url: groups.msn.com/tyrosinemia/ Tyrosinemia-11 An in depth look at this disease from Pediatric Database including investigations and management. url: www.icondata.com/health/pedbase/files/TYROSIN1.HTM mozilla.org url: mozilla.org/ More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web.

77. TYROSINEMIA Meaning And Definition - Dictionary - ELook.org Provides a definition of tyrosinemia. resulting in liver and kidney disturbancesand mental retardation. Synonyms. Search for synonyms for tyrosinemia http://www.elook.org/dictionary/tyrosinemia.html

eLook Home eLook Online Dictionary Search Online Dictionary More Resources Information US City Data Worldwide Weather Entertainment Video Game Cheats Food Nutrition Recipes Literature Literature Reference Computing Dictionary Internet Encyclopedia Programming Reference ... Thesaurus By Letter: Non-alphabet A B C ... Email this page to a friend TYROSINEMIA Definition: [noun] autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation Synonyms: Search for synonyms for TYROSINEMIA eLook Home eLook Online Dictionary Search Online Dictionary ... Contact

78. Tyrosinemia - Definition Of Tyrosinemia In Encyclopedia Searchword not found in the selected dictionary, but you can try the followingGeneralEnglish dictionary. http://encyclopedia.laborlawtalk.com/tyrosinemia

Add to Favorites General Encyclopedia Legal ... Law forum Search Word: Visit our Law forums Labor Law Accidents Law Bankruptcy Law Business Law ... Tax Law Searchword not found in the selected dictionary, but you can try the following: General English dictionary This article is licensed under the GNU Free Documentation License . It uses material from the Wikipedia article "tyrosinemia" Browse tyrosine tyrant bird tyrosinemia tzar ... U Search Word: General Encyclopedia Legal Medical Computer Science Law Forum Embed a dictionary search in your own web page Link to Us Advertise Add to Favorites ... Legal notices

79. Tyrosinemia - Definition Of Tyrosinemia In Legal Searchword not found in the selected dictionary, but you can try the followingGeneralEnglish dictionary. http://legal.laborlawtalk.com/tyrosinemia

Add to Favorites General Encyclopedia Legal ... Law forum Search Word: Visit our Law forums Labor Law Accidents Law Bankruptcy Law Business Law ... Tax Law Searchword not found in the selected dictionary, but you can try the following: General English dictionary Browse tyrosine tyrant bird tyrosinemia tzar ... U Search Word: General Encyclopedia Legal Medical Computer Science Law Forum Embed a dictionary search in your own web page Link to Us Advertise Add to Favorites ... Legal notices

80. Tyrosinemia (Transient Tyrosinemia Of The Newborn, Tyrosyluria) See tyrosinemia, Type II. Type I. Short description of cell lines. Pathologytyrosinemia, type I In vivosuppressor mutations correct liver disease in a http://www.bdid.com/tyrosinemia.htm

HOME Tyrosinemia (Transient Tyrosinemia of the Newborn, Tyrosyluria) Tyrosinemia Tyrosinemia Transient Tyrosinemia Of The Newborn Oculocutaneous Type See Tyrosinemia, Type II Oregon Type See Tyrosinemia, Type II Type I Short description of cell lines. Pathology: tyrosinemia, type I In vivosuppressor mutations correct liver disease in a murine model of Hereditary Tyrosinemia type I Tyrosinemia-I Fumarylacetoacetase deficiency Type II/Oculocutaneous Type/Oregon Type (Richner Hanhart Syndrome; Tyrosine Transaminase Deficiency; Tyrosinosis, Oculocutaneous Type) Keratosis palmoplantaris with corneal dystrophy TYROSINEMIA TYPE II: REPORT OF THE FIRST FOUR CASES IN SAUDI ARABIA Tyrosinemia-II TYROSINE TRANSAMINASE DEFICIENCY ... HOME

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