Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Giovanna Cotugno"'
Autor:
Damiana Pieragostino, Ilaria Cicalini, Silvia Di Michele, Paola Fusilli, Giovanna Cotugno, Rossella Ferrante, Ines Bucci, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi
Publikováno v:
Metabolites, Vol 10, Iss 2, p 44 (2020)
Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy. In Italy, newborn screening (NBS) by MS/MS allows the diagnostic suspicion o
Externí odkaz:
https://doaj.org/article/7a3eca9bc52245d1a0a1978cd0c5bf3a
Autor:
Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, Giovanna Cotugno, Silvia Di Michele, Teresa Giovanniello, Giancarlo La Marca, Francesca Romana Lepri, Antonio Novelli, Claudia Rossi, Michela Semeraro, Carlo Dionisi-Vici
Publikováno v:
Molecular genetics and metabolism. 135(4)
Citrulline is a target analyte measured at expanded newborn screening (NBS) and its elevation represents a biomarker for distal urea cycle disorders and citrin deficiency. Altered ratios of citrulline with other urea cycle-related amino acids are hel
Autor:
Maria Gabriela Pittis, Fabio Corsolini, Marco Spada, Giovanna Cotugno, Roberta Battini, Maja Di Rocco, Mirella Filocamo, Bruno Bembi, Marina Stroppiano, Susanna Lualdi
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762:478-484
The present study aimed to characterize mutant alleles in Mucopolysaccharidosis II and evaluate possible reduction of mRNA amount consequent to nonsense-mediated or nonstop mRNA decay pathways. A combination of different approaches, including real-ti