Sfoglia per Autore
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
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
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
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
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
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
Secondary pterins alteration in patients with phenylalanine hydroxylase deficit
2016 Nardecchia, Francesca; Valentini, G; Chiarotti, F; Santagata, Silvia; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo
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
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.
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.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
Secondary pterins alteration in patients with phenylalanine hydroxylase deficit | 2016 | Nardecchia, Francesca; Valentini, G; Chiarotti, F; Santagata, Silvia; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo | |
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 | |
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. | |
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. |
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