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Tyrosinemia: more detail

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

lists with details

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
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
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

Extractions: 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.
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

Extractions: 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.
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
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
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
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

Extractions: 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 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
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

Extractions: 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 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
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
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

Extractions: 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.
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

Extractions: @import url(default.css); Online Health Information Back to Health Library Print This Page Email to a Friend 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. Model. One group in Quebec. Founded 1989. (Bilingual)
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

Extractions: 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.
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
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

Extractions: 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
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
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
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

Extractions: 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 ...
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
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

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