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of 5
pro vyhledávání: '"Jeannette L. Usher"'
Autor:
Ludevit Kadasi, Jan Radvansky, Robert Aquaron, H Poláková, Andrea Zatkova, Tatiana Sedlackova, Ismail Dursun, Martina Nemethova, Jeannette L. Usher
Publikováno v:
JIMD Reports ISBN: 9783642257513
Enzymatic loss in alkaptonuria (AKU), an autosomal recessive disorder, is caused by mutations in the homogentisate 1,2 dioxygenase (HGD) gene, which decrease or completely inactivate the function of the HGD protein to metabolize homogentisic acid (HG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590eeba9621c6538be09bb7c14ead651
https://doi.org/10.1007/8904_2011_68
https://doi.org/10.1007/8904_2011_68
Autor:
Usher, Jeannette L., Ascher, David B., Pires, Douglas E. V., Milan, Anna M., Blundell, Tom L., Ranganath, Lakshminarayan R.
Publikováno v:
JIMD Reports, Volume 24; 2015, p3-11, 9p
Autor:
Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or bioch
Autor:
SSIEM
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or bioch