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pro vyhledávání: '"Sarah Leuders"'
Autor:
Eva Wolfgart, Thorsten Marquardt, Sarah Leuders, Reinhold Feldmann, J. Weglage, Frank Rutsch, Agnes van Teeffelen-Heithoff, Torsten Ott, Lydia Vogelpohl, Ulrike Och, Marcel du Moulin
Publikováno v:
JIMD reports. 13
Identifying phenylalanine hydroxylase (PAH) mutations associated with sapropterin response in phenylketonuria (PKU) would be an advantageous means to determine clinical benefit to sapropterin therapy.Sapropterin response, defined as a ≥30 % reducti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac1b4ebd2fe281a23146f7c7a75a262
https://pubmed.ncbi.nlm.nih.gov/24190797
https://pubmed.ncbi.nlm.nih.gov/24190797
