Urinary GC-MS and 1H-NMR metabolomics of Sardinian cystic fibrosis patients reveal unique mutation-class dependent signatures: preliminary results

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The CFTR protein acts as an ion channel, and its deficiency results in an increased density and viscosity of secretion. CF shows high phenotypic variability because...

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Detalhes bibliográficos

Principais autores:	Martina Spada, Antonio Noto, Cristina Piras, Giulia Diana, Giulia Paci, Valentina Vincis, Karolina Krystyna Kopeć, Michele Mussap, Vassilios Fanos, Luigi Atzori, Maurizio Zanda
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Hygeia Press di Corridori Marinella 2025-09-01
coleção:	Journal of Pediatric and Neonatal Individualized Medicine
Assuntos:	cystic fibrosis gas chromatography mass spectrometry 1h-nuclear magnetic resonance spectroscopy multivariate statistical analysis clinical biomarkers
Acesso em linha:	https://jpnim.com/index.php/jpnim/article/view/1790
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