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  • gene
  • 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. (eurekalert.org)
  • 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. (eurekalert.org)
  • This finding really excites us because it makes us think that this is a gene repair system that could be used to treat a range of diseases-not just Tyrosinemia but others as well," said senior author Daniel G. Anderson, PhD, associate professor of chemical engineering at the Massachusetts Institute of Technology and a member of the Koch Institute for Integrative Cancer Research and the Institute for Medical Engineering and Science. (umassmed.edu)
  • We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. (springer.com)
  • An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Amino Acid metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism . (malacards.org)
  • This mouse strain has been a useful model of Type I tyrosinemia, a human genetic disease caused by inactivating mutations in the Fah gene. (wikipedia.org)
  • nitisinone
  • There is a pharmaceutical drug on the market, nitisinone, that was originally under development as an herbicide as a member of this class, and is used to treat an orphan disease, Type I tyrosinemia. (wikipedia.org)
  • rickets
  • According to a medical report by Dr Siham Al Sinani, Consultant, Paediatric Gastroenterologist and Hepatologist, at the SQU Hospital, Zeid has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets. (thefreedictionary.com)
  • A medical report of SQU Hospital doctors says the child has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets. (thefreedictionary.com)