PORTA, Francesco

PORTA, Francesco  

SCIENZE CLINICHE E BIOLOGICHE  

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[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 food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU. 2023 Rondanelli M; Porta F; Gasparri C; Barrile GC; Cavioni A; Mansueto F; Mazzola G; Patelli Z; Peroni G; Pirola M; Razza C; Tartara A; Perna S.
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
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
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.