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 nationwide survey of PMM2-CDG in Italy:high frequency of a mild neurological variant associated with the L32R mutation.
2015-01-01 Barone R; Carrozzi M; Parini R; Battini R; Martinelli D; Elia M; Spada M; Lilliu F; Ciana G; Burlina A; Leuzzi V; Leoni M; Sturiale L; Matthijs G; Jaeken J; Di Rocco M; Garozzo D; Fiumara A
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.
2013-01-01 Santarelli F;Cassanello M;Enea A;Poma F;D'Onofrio V;Guala G;Garrone G;Puccinelli P;Caruso U;Porta F;Spada M
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
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus
2023-01-01 Scarpa, Maurizio; Barbato, Antonio; Bisconti, Annalisa; Burlina, Alberto; Concolino, Daniela; Deodato, Federica; Di Rocco, Maja; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fiumara, Agata; Galeone, Carlotta; Giona, Fiorina; Giuffrida, Gaetano; Manna, Raffaele; Mariani, Paolo; Pession, Andrea; Scopinaro, Annalisa; Spada, Marco; Spandonaro, Federico; Trifirò, Gianluca; Carubbi, Francesca; Cappellini, Maria Domenica
Acute heart failure in a 16-month child: onset of primary deficit of carnitine
2007-01-01 Giovannini I; Spada M
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.
An expert consensus on the recommendations for the use of biomarkers in Fabry disease
2023-01-01 Burlina, Alessandro; Brand, Eva; Hughes, Derralynn; Kantola, Ilkka; Krӓmer, Johannes; Nowak, Albina; Tøndel, Camilla; Wanner, Christoph; Spada, Marco
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
2018-01-01 Calvo PL; Spada M; Rabbone I; Pinon M; Porta F; Cisarò F; Reggiani S; Cefalù AB; Sturiale L; Garozzo D; Lefeber DJ; Jaeken J
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
Atopic dermatitis in a phenylketonuric untreated patient
2015-01-01 Fava p; Fierro MT; Brizio M; Marra E; Spada M; Bernengo MG
Atrial Dysfunction Assessed by Cardiac Magnetic Resonance as an Early Marker of Fabry Cardiomyopathy
2020-01-01 Bernardini, Andrea; Camporeale, Antonia; Pieroni, Maurizio; Pieruzzi, Federico; Figliozzi, Stefano; Lusardi, Paola; Spada, Marco; Mignani, Renzo; Burlina, Alessandro; Carubbi, Francesca; Battaglia, Yuri; Graziani, Francesca; Pica, Silvia; Tondi, Lara; Chow, Kelvin; Boveri, Sara; Olivotto, Iacopo; Lombardi, Massimo
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy
2024-01-01 Ricci, Federica Silvia; Stanga, Serena; Mezzanotte, Mariarosa; Marinaccio, Cristina; D'Alessandro, Rossella; Somà, Alessandra; Sottemano, Stefano; Conio, Alessandra; Morana, Giovanni; Spada, Marco; Boido, Marina; Mongini, Tiziana E
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.
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort
2012-01-01 Funghini S; Thusberg J; Spada M; Gasperini S; Parini R; Ventura L; Meli C; De Cosmo L; Sibilio M; Mooney SD; Guerrini R; Donati MA; Morrone A
Carbohydrate-deficient glycoprotein syndromes : the Italian experience
2000-01-01 Di Rocco M; Barone R; Adami A; Burlina A; Carrozzi M; Dionisi-Vici C; Gatti R; Iannetti P; Parini R; Raucci U; Roccella M; Spada M; Fiumara A
Cardiac response to enzyme replacement therapy in Gaucher's disease
1998-01-01 Spada M; Chiappa E; Ponzone A
Case Report: Morphologic and Functional Characteristics of Intestinal Mucosa in a Child With Short Bowel Syndrome After Treatment With Teduglutide: Evidence in Favor of GLP-2 Analog Safety
2022-01-01 Falco, Enrico Costantino; Lezo, Antonella; Calvo, Pierluigi; Rigazio, Caterina; Opramolla, Anna; Verdun, Ludovica; Cenacchi, Giovanna; Pellegrini, Marianna; Spada, Marco; Canavese, Gabriella
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.
| 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 nationwide survey of PMM2-CDG in Italy:high frequency of a mild neurological variant associated with the L32R mutation. | 2015 | Barone R; Carrozzi M; Parini R; Battini R; Martinelli D; Elia M; Spada M; Lilliu F; Ciana G; Burlina A; Leuzzi V; Leoni M; Sturiale L; Matthijs G; Jaeken J; Di Rocco M; Garozzo D; Fiumara A | |
| A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. | 2013 | Santarelli F;Cassanello M;Enea A;Poma F;D'Onofrio V;Guala G;Garrone G;Puccinelli P;Caruso U;Porta F;Spada M | |
| 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 | |
| Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus | 2023 | Scarpa, Maurizio; Barbato, Antonio; Bisconti, Annalisa; Burlina, Alberto; Concolino, Daniela; Deodato, Federica; Di Rocco, Maja; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fiumara, Agata; Galeone, Carlotta; Giona, Fiorina; Giuffrida, Gaetano; Manna, Raffaele; Mariani, Paolo; Pession, Andrea; Scopinaro, Annalisa; Spada, Marco; Spandonaro, Federico; Trifirò, Gianluca; Carubbi, Francesca; Cappellini, Maria Domenica | |
| Acute heart failure in a 16-month child: onset of primary deficit of carnitine | 2007 | Giovannini I; Spada M | |
| 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. | |
| An expert consensus on the recommendations for the use of biomarkers in Fabry disease | 2023 | Burlina, Alessandro; Brand, Eva; Hughes, Derralynn; Kantola, Ilkka; Krӓmer, Johannes; Nowak, Albina; Tøndel, Camilla; Wanner, Christoph; Spada, Marco | |
| An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia | 2018 | Calvo PL; Spada M; Rabbone I; Pinon M; Porta F; Cisarò F; Reggiani S; Cefalù AB; Sturiale L; Garozzo D; Lefeber DJ; Jaeken J | |
| 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 | |
| Atopic dermatitis in a phenylketonuric untreated patient | 2015 | Fava p; Fierro MT; Brizio M; Marra E; Spada M; Bernengo MG | |
| Atrial Dysfunction Assessed by Cardiac Magnetic Resonance as an Early Marker of Fabry Cardiomyopathy | 2020 | Bernardini, Andrea; Camporeale, Antonia; Pieroni, Maurizio; Pieruzzi, Federico; Figliozzi, Stefano; Lusardi, Paola; Spada, Marco; Mignani, Renzo; Burlina, Alessandro; Carubbi, Francesca; Battaglia, Yuri; Graziani, Francesca; Pica, Silvia; Tondi, Lara; Chow, Kelvin; Boveri, Sara; Olivotto, Iacopo; Lombardi, Massimo | |
| Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy | 2024 | Ricci, Federica Silvia; Stanga, Serena; Mezzanotte, Mariarosa; Marinaccio, Cristina; D'Alessandro, Rossella; Somà, Alessandra; Sottemano, Stefano; Conio, Alessandra; Morana, Giovanni; Spada, Marco; Boido, Marina; Mongini, Tiziana E | |
| 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. | |
| Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort | 2012 | Funghini S; Thusberg J; Spada M; Gasperini S; Parini R; Ventura L; Meli C; De Cosmo L; Sibilio M; Mooney SD; Guerrini R; Donati MA; Morrone A | |
| Carbohydrate-deficient glycoprotein syndromes : the Italian experience | 2000 | Di Rocco M; Barone R; Adami A; Burlina A; Carrozzi M; Dionisi-Vici C; Gatti R; Iannetti P; Parini R; Raucci U; Roccella M; Spada M; Fiumara A | |
| Cardiac response to enzyme replacement therapy in Gaucher's disease | 1998 | Spada M; Chiappa E; Ponzone A | |
| Case Report: Morphologic and Functional Characteristics of Intestinal Mucosa in a Child With Short Bowel Syndrome After Treatment With Teduglutide: Evidence in Favor of GLP-2 Analog Safety | 2022 | Falco, Enrico Costantino; Lezo, Antonella; Calvo, Pierluigi; Rigazio, Caterina; Opramolla, Anna; Verdun, Ludovica; Cenacchi, Giovanna; Pellegrini, Marianna; Spada, Marco; Canavese, Gabriella | |
| 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. |