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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

Health Library -
Provides support and information for parents of children with tyrosinemia typeI (aka alpha foetoprotein or hepatorenal type hereditary tyrosinemia).
http://yalenewhavenhealth.org/library/healthguide/en-us/SelfHelp/topic.asp?hwid=
ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Rare_Disorders/Tyr
National Library of Medicine The synonyms of tyrosinemia 11, tyrosinemia -For all people interested in connecting with others with this disease.
http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Rare_Disord

Extractions: Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Can't find it? Try searching Science Daily or the entire web with: Web sciencedaily.com Search Our Archives Find: in: All News Sections from: to sort: relevance date more options New Job Postings Find: City: State: ALL AL AK AZ AR CA CO CT DE DC FL GA HI ID IL IN IA KS KY LA ME MD MA MI MN MS MO MT NE NV NH NJ NM NY NC ND OH OK OR PA RI SC SD TN TX UT VT VA WA WV WI WY View: All Jobs by Type All Jobs by Industry Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail Post: Jobs Resumes We want to
THE MERCK MANUAL--SECOND HOME EDITION, Amino Acid Metabolism In Ch. 282, Heredit
Children with tyrosinemia are unable to completely metabolize the amino acid tyrosine Unlike type I tyrosinemia, restriction of tyrosine in the diet can
http://www.merck.com/mmhe/sec23/ch282/ch282c.html

Extractions: var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Hereditary Metabolic Disorders Topics Introduction Amino Acid Metabolism Carbohydrate Metabolism Lipid Metabolism Pyruvate Metabolism Amino Acid Metabolism Buy The Book Print This Topic Email This Topic Pronunciations amniocentesis chorionic villus sampling cobalamin cystinuria ... pyruvate metabolism Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing can be the result of defects either in the breakdown of amino acids or in the body's ability to get the amino acids into cells. Because these disorders produce symptoms early in life, newborns are routinely screened for several common ones. In the United States, newborns are commonly screened for phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, and a number of other inherited disorders, although screening varies from state to state.
Tyrosinemia Links
This tyrosinemia links page contains links to support groups, education sites,and metabolic programs.
http://www.formydiet.com/Information/LinkList.aspx?c=5
IngentaConnect In Vivo Correction Of Murine Tyrosinemia Type I By DNA-Mediated T
In Vivo Correction of Murine tyrosinemia Type I by DNAMediated Transposition.Authors Montini E. 1; Held PK 1; Noll M. 1; Morcinek N. 1; Al-Dhalimy M. 1;
http://www.ingentaconnect.com/content/ap/ot/2002/00000006/00000006/art00812

Extractions: For Researchers For Librarians Authors: Montini E. ; Held P.K. ; Noll M. ; Morcinek N. ; Al-Dhalimy M. ; Finegold M. ; Yant S.R. ; Kay M.A. ; Grompe M. Source: Molecular Therapy , Volume 6, Number 6, December 2002, pp. 759-769(11) Publisher: Academic Press View Table of Contents full text options Abstract: Gene therapy applications of naked DNA constructs for genetic disorders have been limited because of lack of permanent transgene expression. This limitation, however, can be overcome by the Sleeping Beauty (SB) transposable element, which can achieve permanent transgene expression through genomic integration from plasmid DNA. To date, only one example of an in vivo gene therapy application of this system has been reported. In this report, we have further defined the activity of the SB transposon
Mouse Models For The Human Disease Of Chronic Hereditary Tyrosinemia
When a section of mouse chromosome 7 containing the coat color c gene is deletedby exposing mice to radiation, albino mice are born with a white,
http://www.eurekalert.org/features/doe/2001-06/drnl-mmf061802.php

Extractions: Text-Only Privacy Policy Site Map 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.
Tyrosinemia - Definition Of Tyrosinemia In The Medical Dictionary - By The Free
Definition of tyrosinemia in the Medical Dictionary and Thesaurus. tyrosinemiaexplanation. Information about tyrosinemia in Free online English dictionary.
http://medical-dictionary.thefreedictionary.com/tyrosinemia

Extractions: Feedback ty·ro·si·ne·mi·a (t r -s -n m n. An inherited disorder of tyrosine metabolism marked by an increase in the concentration of tyrosine in the blood, an increase in urinary excretion of tyrosine and related compounds, hepatosplenomegaly, nodular cirrhosis of the liver, multiple renal tubular reabsorptive defects, and vitamin D-resistant rickets.
Arch Pediatr Adolesc Med -- Abstract: Dietary Management Of Oculocutaneous Tyros
Dietary management of oculocutaneous tyrosinemia in an 11year-old child An 11-year-old girl with keratitis and plantar keratosis had tyrosinemia.
http://archpedi.ama-assn.org/cgi/content/abstract/137/10/995

Extractions: Vol. 137 No. 10, October 1983 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Ney D Nyhan WL Contact me when this article is cited D. Ney, C. Bay, J. A. Schneider, D. Kelts and W. L. Nyhan An 11-year-old girl with keratitis and plantar keratosis had tyrosinemia. The concentration of tyrosine in the plasma was 16.5 mg/dL. Dietary intake of phenylalanine and tyrosine was systematically varied, and the plasma concentrations of tyrosine and nitrogen balance were studied. It was necessary to achieve a total intake of phenylalanine and tyrosine less than 100 mg/kg/day to obtain plasma concentrations of tyrosine of less than 10 mg/dL. After dietary therapy was started, the keratitis resolved promptly
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Chapitre 3 V259L, associated with atypical symptoms of hereditary Translate this page A new mutation of the fah gene, responsible for hereditary tyrosinemia type I, Hereditary tyrosinemia type I is the most severe disease of the tyrosine
http://www.anywho.com/cgi-bin/webdrill?catkey=gwd/Top/Health/Conditions_and_Dise
Vindex - Zoekresultaten Voor
The synonyms of tyrosinemia 11, a summary and major features. URLhttp//www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=tyrosinemia+II field=name
http://www.vindex.nl/dmoz.jspx?topic_id=Top/Health/Conditions_and_Diseases/Rare_
Atlas Tyrosinemia Tyrosinemie
Translate this page ATLAS DE PEDIATRIE. Tyrosinémie/tyrosinemia. INDEX. Tyrosinémie tyrosinemia.Photophobie - kératite dans la tyrosinémie taux excessifs de tyrosine
http://www.icampus.ucl.ac.be/PEDIHEPA/document/pedihepa/atlas3.htm
On The Enzymic Defects In Hereditary Tyrosinemia -- Lindblad Et Al. 74 (10): 464
Urine from patients with hereditary tyrosinemia contained an inhibitor that wasisolated and Hepatocyte injury in tyrosinemia type 1 is induced by
http://www.pnas.org/cgi/content/abstract/74/10/4641

Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Lindblad, B. Articles by Steen, G. October 1, 1977
Health Library -
next . Children s Liver Alliance 3835 Richmond Avenue, Box 190
http://12.42.224.150/library/healthguide/en-us/SelfHelp/topic.asp?hwid=shc29tyr

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