SANTAGATA, SILVIA
SANTAGATA, SILVIA
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 LC-MS/MS method for the determination of biopterin and neopterin in dried blood spot
2016 Santagata, Silvia; DI CARLO, Emanuele; Angeloni, Antonio; Leuzzi, Vincenzo; Carducci, Claudia
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
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS)
2016 Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo
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
Secondary pterins alteration in patients with phenylalanine hydroxylase deficit
2016 Nardecchia, Francesca; Valentini, G; Chiarotti, F; Santagata, Silvia; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo
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
| 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 LC-MS/MS method for the determination of biopterin and neopterin in dried blood spot | 2016 | Santagata, Silvia; DI CARLO, Emanuele; Angeloni, Antonio; Leuzzi, Vincenzo; Carducci, Claudia | |
| 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 | |
| Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) | 2016 | Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo | |
| 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 | |
| Secondary pterins alteration in patients with phenylalanine hydroxylase deficit | 2016 | Nardecchia, Francesca; Valentini, G; Chiarotti, F; Santagata, Silvia; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo | |
| 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 |