SPADA, Marco
SPADA, Marco
SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA
2006-01-01 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
2004-01-01 PEDUTO A; SPADA M; ALLUTO A; LA DOLCETTA M; A. PONZONE; SANTER R
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
2022-01-01 Kalantari S.; Brezzi B.; Bracciama V.; Barreca A.; Nozza P.; Vaisitti T.; Amoroso A.; Deaglio S.; Manganaro M.; Porta F.; Spada M.
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
2009-01-01 Kleinert J; Kotanko P; Spada M; Pagliardini S; Paschke E; Paul K; Voigtländer T; Wallner M; Kramar R; Stummvoll HK; Schwarz C; Horn S; Holzer H; Födinger M; Sunder-Plassmann G.
Association between EEG Paroxysmal Abnormalities and Levels of Plasma Amino Acids and Urinary Organic Acids in Children with Autism Spectrum Disorder
2022-01-01 Marcotulli, Daniele; Davico, Chiara; Somà, Alessandra; Teghille, Guido; Ravaglia, Giorgio; Amianto, Federico; Ricci, Federica; Puccinelli, Maria Paola; Spada, Marco; Vitiello, Benedetto
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.
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
1993-01-01 Ponzone A; Guardamagna O; Dianzani I; Ponzone R; Ferrero GB; Spada M; Cotton RG.
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
2008-01-01 Bruno C; Bertini E; Di Rocco M; Cassandrini D; Ruffa G; De Toni T; Seri M; Spada M; Li Volti G; D'Amico A; Trucco F; Arca M; Casali C; Angelini C; Dimauro S; Minetti C.
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
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism
2019-01-01 Porta, Francesco; Romagnoli, Renato; Busso, Marta; Tandoi, Francesco; Spada, Marco
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
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
1998-01-01 Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG.
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency.
2009-01-01 Porta F; Mussa A; Concolino D; Spada M; Ponzone A.
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.
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
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
2022-01-01 Ditters I.A.M.; Huidekoper H.H.; Kruijshaar M.E.; Rizopoulos D.; Hahn A.; Mongini T.E.; Labarthe F.; Tardieu M.; Chabrol B.; Brassier A.; Parini R.; Parenti G.; van der Beek N.A.M.E.; van der Ploeg A.T.; van den Hout J.M.P.; Mengel E.; Hennermann J.; Smitka M.; Muschol N.; Marquardt T.; Marquardt M.; Thiels C.; Spada M.; Pagliardini V.; Menni F.; della Casa R.; Deodato F.; Gasperini S.; Burlina A.; Donati A.; Pichard S.; Feillet F.; Huet F.; Mention K.; Eyer D.; Kuster A.; Espil Taris C.; Lefranc J.; Barth M.; Bruel H.; Chevret L.; Pitelet G.; Pitelet C.; Rivier F.; Dobbelaere D.
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
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.
Genealogy of breastfeeding
2016-01-01 Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
2000-01-01 de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA | 2006 | PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE | |
| A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. | 2004 | PEDUTO A; SPADA M; ALLUTO A; LA DOLCETTA M; A. PONZONE; SANTER R | |
| Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists | 2022 | Kalantari S.; Brezzi B.; Bracciama V.; Barreca A.; Nozza P.; Vaisitti T.; Amoroso A.; Deaglio S.; Manganaro M.; Porta F.; Spada M. | |
| Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. | 2009 | Kleinert J; Kotanko P; Spada M; Pagliardini S; Paschke E; Paul K; Voigtländer T; Wallner M; Kramar R; Stummvoll HK; Schwarz C; Horn S; Holzer H; Födinger M; Sunder-Plassmann G. | |
| Association between EEG Paroxysmal Abnormalities and Levels of Plasma Amino Acids and Urinary Organic Acids in Children with Autism Spectrum Disorder | 2022 | Marcotulli, Daniele; Davico, Chiara; Somà, Alessandra; Teghille, Guido; Ravaglia, Giorgio; Amianto, Federico; Ricci, Federica; Puccinelli, Maria Paola; Spada, Marco; Vitiello, Benedetto | |
| 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. | |
| Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. | 1993 | Ponzone A; Guardamagna O; Dianzani I; Ponzone R; Ferrero GB; Spada M; Cotton RG. | |
| Clinical and genetic characterization of Chanarin-Dorfman syndrome. | 2008 | Bruno C; Bertini E; Di Rocco M; Cassandrini D; Ruffa G; De Toni T; Seri M; Spada M; Li Volti G; D'Amico A; Trucco F; Arca M; Casali C; Angelini C; Dimauro S; Minetti C. | |
| 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 | |
| Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism | 2019 | Porta, Francesco; Romagnoli, Renato; Busso, Marta; Tandoi, Francesco; Spada, Marco | |
| 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 | |
| Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. | 1998 | Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG. | |
| Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. | 2009 | Porta F; Mussa A; Concolino D; Spada M; Ponzone A. | |
| Early higher dosage of alglucosidase alpha in classic Pompe disease | 2018 | Spada M.; Pagliardini V.; Ricci F.; Biamino E.; Mongini T.; Porta F. | |
| 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 | |
| Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium | 2022 | Ditters I.A.M.; Huidekoper H.H.; Kruijshaar M.E.; Rizopoulos D.; Hahn A.; Mongini T.E.; Labarthe F.; Tardieu M.; Chabrol B.; Brassier A.; Parini R.; Parenti G.; van der Beek N.A.M.E.; van der Ploeg A.T.; van den Hout J.M.P.; Mengel E.; Hennermann J.; Smitka M.; Muschol N.; Marquardt T.; Marquardt M.; Thiels C.; Spada M.; Pagliardini V.; Menni F.; della Casa R.; Deodato F.; Gasperini S.; Burlina A.; Donati A.; Pichard S.; Feillet F.; Huet F.; Mention K.; Eyer D.; Kuster A.; Espil Taris C.; Lefranc J.; Barth M.; Bruel H.; Chevret L.; Pitelet G.; Pitelet C.; Rivier F.; Dobbelaere D. | |
| 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 | |
| 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. | |
| Genealogy of breastfeeding | 2016 | Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto | |
| Genotype-phenotype correlation in dihydropteridine reductase deficiency. | 2000 | de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I. |