Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Britt Delnoy"'
Autor:
Britt Delnoy, Minela Haskovic, Jo Vanoevelen, Laura K. M. Steinbusch, Esther Naomi Vos, Kèvin Knoops, Luc J. I. Zimmermann, Marek Noga, Dirk J. Lefeber, Paolo G. V. Martini, Ana I. Coelho, Maria Estela Rubio‐Gozalbo
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Contains fulltext : 282590.pdf (Publisher’s version ) (Open Access) Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e2f4c19e9e2710f907c35fdb0be565
http://hdl.handle.net/2066/282590
http://hdl.handle.net/2066/282590
Publikováno v:
Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 75, p 75 (2021)
Journal of Personalized Medicine, Vol 11, Iss 75, p 75 (2021)
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021092d2556f670a0866200eed2fc26e
https://pubmed.ncbi.nlm.nih.gov/33525536
https://pubmed.ncbi.nlm.nih.gov/33525536
