Sfoglia per Autore
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase.
2010-01-01 Roato I; Porta F; Mussa A; D'Amico L; Fiore L; Garelli D; Spada M; Ferracini R.
Tetrahydrobiopterin and phenylketonuria.
2011-01-01 Porta F; Spada M; Garelli D; Mussa A; Ponzone A.
Phenotyping and treatment of phenylketonuria.
2011-01-01 Porta F; Mussa A; Garelli D; Spada M.
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia.
2011-01-01 Porta F; Mussa A; Zanin A; Greggio NA; Burlina A; Spada M.
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2.
2012-01-01 L. Vercelli; E. Vittonatto ; S. Grifoni; L. Chiado-Piat; M. Spada; C. Danesino; G. Comi; T. Mongini.
Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis
2014-01-01 P.L. Calvo; A. Brunati; M. Spada; R. Romagnoli; G. Corso; G. Parenti; M. Rossi; M. Baldi; G. Carbonaro; E. David; A. Pucci; A. Amoroso; M. Salizzoni
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease
2014-01-01 Concolino, Daniela; Degennaro, Emilia; Parini, Rossella; Antuzzi, Daniela; Bembi, Bruno; Benso, Andrea; Carraro, Gianni; Chimenti, Cristina; Colla, Loredana; Cuonzo, Maria Teresa; Del Rosso, Goffredo; Diomedi, Marina; Feliciani, Claudio; Feriozzi, Sandro; Ficcadenti, Anna; Frustaci, Andrea; Gnarra, Maria; Maccarone, Margherita; Mancuso, Michelangelo; Matucci, Andrea; Mignani, Renzo; Musumeci, Beatrice; Nencini, Patrizia; Piga, Stefania; Pisani, Antonio; Re, Federica; Salviati, Alessandro; Spada, Marco; Vultaggio, Alessandra; Zachara, Elisabetta; Zedde, Maria Luisa; Zoli, Pier Giorgio
Newborn screening for galactosemia: a 30-year single center experience
2015-01-01 Porta, Francesco; Pagliardini, Severo; Pagliardini, Veronica; Ponzone, Alberto; Spada, Marco
Early liver transplantation for neonatal-onset methylmalonic acidemia
2015-01-01 Spada, Marco; Calvo, Pier Luigi; Brunati, Andrea; Peruzzi, Licia; Dell'Olio, Dominic; Romagnoli, Renato; Porta, Francesco
Liver transplantation in severe methylmalonic acidemia: the sooner, the better
2015-01-01 Marco, Spada; Pierluigi, Calvo; Andrea, Brunati; Licia, Peruzzi; Dominic, Dell'Olio; Renato, Romagnoli; Francesco, Porta
Playing competitive basketball in face of late-onset pompe disease
2015-01-01 Porta F; Pagliardini V; Roasio L; Biamino E; Spada M
Genealogy of breastfeeding
2016-01-01 Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency
2016-01-01 Porta, Francesco; Ponzone, Alberto; Spada, Marco
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency
2016-01-01 Porta, Francesco; Ponzone, Alberto; Spada, Marco
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency
2017-01-01 Herrera Sanchez, Maria Beatriz; Previdi, Sara; Bruno, Stefania; Fonsato, Valentina; Deregibus, Maria Chiara; Kholia, Sharad; Petrillo, Sara; Tolosano, Emanuela; Critelli, Rossana; Spada, Marco; Romagnoli, Renato; Salizzoni, Mauro; Tetta, Ciro; Camussi, Giovanni
NBAS mutations cause acute liver failure: When acetaminophen is not a culprit
2017-01-01 Calvo, Pier Luigi*; Tandoi, Francesco; Haak, Tobias B.; Brunati, Andrea; Pinon, Michele; Olio, Dominic Dell; Romagnoli, Renato; Spada, Marco
Metabolic progression to clinical phenotype in classic Fabry disease
2017-01-01 Spada, Marco; Kasper, David; Pagliardini, Veronica; Biamino, Elisa; Giachero, Silvana; Porta, Francesco
Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care
2018-01-01 Ricci F.; Brusa C.; Rossi F.; Rolle E.; Placentino V.; Berardinelli A.; Pagliardini V.; Porta F.; Spada M.; Mongini T.
Early higher dosage of alglucosidase alpha in classic Pompe disease
2018-01-01 Spada M.; Pagliardini V.; Ricci F.; Biamino E.; Mongini T.; Porta F.
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism
2018-01-01 Porta, Francesco; Peruzzi, Licia; Bonaudo, Roberto; Pieretti, Silvia; Busso, Marta; Cocchi, Enrico; Conio, Alessandra; Pagliardini, Veronica; Spada, Marco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. | 2010 | Roato I; Porta F; Mussa A; D'Amico L; Fiore L; Garelli D; Spada M; Ferracini R. | |
| Tetrahydrobiopterin and phenylketonuria. | 2011 | Porta F; Spada M; Garelli D; Mussa A; Ponzone A. | |
| Phenotyping and treatment of phenylketonuria. | 2011 | Porta F; Mussa A; Garelli D; Spada M. | |
| Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. | 2011 | Porta F; Mussa A; Zanin A; Greggio NA; Burlina A; Spada M. | |
| Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. | 2012 | L. Vercelli; E. Vittonatto ; S. Grifoni; L. Chiado-Piat; M. Spada; C. Danesino; G. Comi; T. Mongini. | |
| Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis | 2014 | P.L. Calvo; A. Brunati; M. Spada; R. Romagnoli; G. Corso; G. Parenti; M. Rossi; M. Baldi; G. Carbonaro; E. David; A. Pucci; A. Amoroso; M. Salizzoni | |
| Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease | 2014 | Concolino, Daniela; Degennaro, Emilia; Parini, Rossella; Antuzzi, Daniela; Bembi, Bruno; Benso, Andrea; Carraro, Gianni; Chimenti, Cristina; Colla, Loredana; Cuonzo, Maria Teresa; Del Rosso, Goffredo; Diomedi, Marina; Feliciani, Claudio; Feriozzi, Sandro; Ficcadenti, Anna; Frustaci, Andrea; Gnarra, Maria; Maccarone, Margherita; Mancuso, Michelangelo; Matucci, Andrea; Mignani, Renzo; Musumeci, Beatrice; Nencini, Patrizia; Piga, Stefania; Pisani, Antonio; Re, Federica; Salviati, Alessandro; Spada, Marco; Vultaggio, Alessandra; Zachara, Elisabetta; Zedde, Maria Luisa; Zoli, Pier Giorgio | |
| Newborn screening for galactosemia: a 30-year single center experience | 2015 | Porta, Francesco; Pagliardini, Severo; Pagliardini, Veronica; Ponzone, Alberto; Spada, Marco | |
| Early liver transplantation for neonatal-onset methylmalonic acidemia | 2015 | Spada, Marco; Calvo, Pier Luigi; Brunati, Andrea; Peruzzi, Licia; Dell'Olio, Dominic; Romagnoli, Renato; Porta, Francesco | |
| Liver transplantation in severe methylmalonic acidemia: the sooner, the better | 2015 | Marco, Spada; Pierluigi, Calvo; Andrea, Brunati; Licia, Peruzzi; Dominic, Dell'Olio; Renato, Romagnoli; Francesco, Porta | |
| Playing competitive basketball in face of late-onset pompe disease | 2015 | Porta F; Pagliardini V; Roasio L; Biamino E; Spada M | |
| Genealogy of breastfeeding | 2016 | Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto | |
| Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency | 2016 | Porta, Francesco; Ponzone, Alberto; Spada, Marco | |
| Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency | 2016 | Porta, Francesco; Ponzone, Alberto; Spada, Marco | |
| Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency | 2017 | Herrera Sanchez, Maria Beatriz; Previdi, Sara; Bruno, Stefania; Fonsato, Valentina; Deregibus, Maria Chiara; Kholia, Sharad; Petrillo, Sara; Tolosano, Emanuela; Critelli, Rossana; Spada, Marco; Romagnoli, Renato; Salizzoni, Mauro; Tetta, Ciro; Camussi, Giovanni | |
| NBAS mutations cause acute liver failure: When acetaminophen is not a culprit | 2017 | Calvo, Pier Luigi*; Tandoi, Francesco; Haak, Tobias B.; Brunati, Andrea; Pinon, Michele; Olio, Dominic Dell; Romagnoli, Renato; Spada, Marco | |
| Metabolic progression to clinical phenotype in classic Fabry disease | 2017 | Spada, Marco; Kasper, David; Pagliardini, Veronica; Biamino, Elisa; Giachero, Silvana; Porta, Francesco | |
| Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care | 2018 | Ricci F.; Brusa C.; Rossi F.; Rolle E.; Placentino V.; Berardinelli A.; Pagliardini V.; Porta F.; Spada M.; Mongini T. | |
| Early higher dosage of alglucosidase alpha in classic Pompe disease | 2018 | Spada M.; Pagliardini V.; Ricci F.; Biamino E.; Mongini T.; Porta F. | |
| Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism | 2018 | Porta, Francesco; Peruzzi, Licia; Bonaudo, Roberto; Pieretti, Silvia; Busso, Marta; Cocchi, Enrico; Conio, Alessandra; Pagliardini, Veronica; Spada, Marco |
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