SANTAGATA, SILVIA

SANTAGATA, SILVIA  

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Titolo Data di pubblicazione Autore(i) File
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature 2022 Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V.
A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening 2006 Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; DE LEO, S; Vestri, L; Santagata, Silvia; Pozzessere, Simone; Antonozzi, Italo
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency 2017 Nardecchia, Francesca; Chiarotti, Flavia; Carducci, Claudia; Santagata, Silvia; Valentini, Giulia; Angeloni, Antonio; Blau, Nenad; Leuzzi, Vincenzo
Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot 2017 Santagata, Silvia; Di Carlo, Emanuele; Carducci, Carla; Leuzzi, Vincenzo; Angeloni, Antonio; Carducci, Claudia
In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism 2012 Carducci, Claudia; Carducci, Carla; Santagata, Silvia; Enrico, Adriano; Artiola, Cristiana; Stefano, Thellung; Elena, Gatta; Mauro, Robello; Tullio, Florio; Antonozzi, Italo; Leuzzi, Vincenzo; Maurizio, Balestrino
Pregnancy in a Methylmalonic Acidemia Patient With Kidney Transplantation: A Case Report 2013 Lubrano, Riccardo; Bellelli, Elena; Gentile, Isotta; Sara, Paoli; Carducci, Claudia; Carducci, Carla; Santagata, Silvia; B., Perez; M., Ugarte; D., Labriola; M., Elli
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency 2021 Di Carlo, E.; Santagata, S.; Sauro, L.; Tolve, M.; Manti, F.; Leuzzi, V.; Angeloni, A.; Carducci, C.
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 2015 Carducci, Claudia; Santagata, Silvia; Friedman, J; Pasquini, E; Tolve, M; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 2015 Carducci, Claudia; Santagata, Silvia; Friedman, Jennifer; Pasquini, Elisabetta; Carducci, Carla; Tolve, Manuela; Angeloni, Antonio; Leuzzi, Vincenzo