Zobrazeno 1 - 1
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pro vyhledávání: '"Mariagrazia Turturo"'
Autor:
Alessandro Rossi, Mariagrazia Turturo, Lucia Albano, Simona Fecarotta, Ferdinando Barretta, Daniela Crisci, Giovanna Gallo, Rosa Perfetto, Fabiana Uomo, Fabiana Vallone, Guglielmo Villani, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso, Margherita Ruoppolo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
IntroductionShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. The role of current diagnostic biomarkers [i.e., blood 2-methylbutyrylcarnitine (C5)
Externí odkaz:
https://doaj.org/article/55e601516b4c42e0a35649676661ce05
