SPADA, Marco

SPADA, Marco  

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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
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.
Hair anomalies as a sign of mitochondrial disease. 2003 Silengo M; Valenzise M; Spada M; Ferrero GB; Ferraris S; Dassi P; Jarre L.