Article
Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis.
American journal of perinatology - 1 Jul 2021
Schulpis Kleopatra H, Molou Elina, Manta-Vogli Penelope, Dotsikas Yannis, Thodi Georgia, Chatzidaki Maria, Loukas Yannis L
Abstract excerpt
OBJECTIVE: Cystic fibrosis (CF) is a multisystemic inherited disease. The aim of this study was to determine free carnitine (FC) and acylcarnitine concentrations in CF newborns with various mutations of the CFTR gene perinatally. STUDY DESIGN: FC/acylcarnitines were determined in dried blood spots via liquid chromatography-tandem mass spectrometry (LC-MS/MS) on the third day of life of full-term normal (n = 50)...
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