PORTA, FRANCESCO
PORTA, FRANCESCO
[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up].
2006-01-01 Mussa A;Porta F;Baldassarre G;Corrias A;Bellone J;de Sanctis C
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 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
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 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
Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound.
2007-01-01 Mussa, Alessandro; Porta, Francesco; Gianoglio, Bruno; Gaido, Maurizio; Nicolosi, Mario Guido; De Terlizzi, Francesca; de Sanctis, Carlo; Coppo, Rosanna
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.
Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure.
2010-01-01 Mussa A; Repici M; Fiore L; Tuli G; Porta F; Matarazzo P.
Breastfeeding effects on newborn screening.
2010-01-01 Porta F; Mussa A; Ponzone A.
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
2019-01-01 Porta, Francesco; Chiesa, Nicoletta; Martinelli, Diego; Spada, Marco
Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease
2019-01-01 Porta, Francesco; Busso, Marta; Giorda, Sara; Spada, Marco
Cornea Verticillata and Fabry Disease
2013-01-01 Marco Spada;Ausilia Enea;Amelia Morrone;Antonio Fea;Francesco Porta
Determinants of thyrotropin rise in congenital hypothyroidism
2011-01-01 Alessandro Mussa;Francesco Porta; Giuseppina Baldassarre; Andrea Corrias
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
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2020-01-01 Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautam P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency.
2009-01-01 Porta F; Mussa A; Concolino D; Spada M; Ponzone A.
Dopamine agonists in dihydropteridine reductase deficiency
2012-01-01 Francesco Porta;Alessandro Mussa;Daniela Concolino;Marco Spada;Alberto Ponzone
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
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria
2017-01-01 Porta F; Spada M; Ponzone A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| [Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up]. | 2006 | Mussa A;Porta F;Baldassarre G;Corrias A;Bellone J;de Sanctis C | |
| 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 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 | |
| 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 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 | |
| Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. | 2007 | Mussa, Alessandro; Porta, Francesco; Gianoglio, Bruno; Gaido, Maurizio; Nicolosi, Mario Guido; De Terlizzi, Francesca; de Sanctis, Carlo; Coppo, Rosanna | |
| 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. | |
| Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure. | 2010 | Mussa A; Repici M; Fiore L; Tuli G; Porta F; Matarazzo P. | |
| Breastfeeding effects on newborn screening. | 2010 | Porta F; Mussa A; Ponzone A. | |
| Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature | 2019 | Porta, Francesco; Chiesa, Nicoletta; Martinelli, Diego; Spada, Marco | |
| Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease | 2019 | Porta, Francesco; Busso, Marta; Giorda, Sara; Spada, Marco | |
| Cornea Verticillata and Fabry Disease | 2013 | Marco Spada;Ausilia Enea;Amelia Morrone;Antonio Fea;Francesco Porta | |
| Determinants of thyrotropin rise in congenital hypothyroidism | 2011 | Alessandro Mussa;Francesco Porta; Giuseppina Baldassarre; Andrea Corrias | |
| Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism | 2019 | Porta, Francesco; Romagnoli, Renato; Busso, Marta; Tandoi, Francesco; Spada, Marco | |
| Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study | 2020 | Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautam P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward | |
| Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. | 2009 | Porta F; Mussa A; Concolino D; Spada M; Ponzone A. | |
| Dopamine agonists in dihydropteridine reductase deficiency | 2012 | Francesco Porta;Alessandro Mussa;Daniela Concolino;Marco Spada;Alberto Ponzone | |
| 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 | |
| Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria | 2017 | Porta F; Spada M; Ponzone A |