Metabolic progression to clinical phenotype in classic Fabry disease

by Spada, Marco, Kasper, David, Pagliardini, Veronica, Biamino, Elisa, Giachero, Silvana, Porta, Francesco
Published in Ital J Pediatr (2017)

Neonatal screening for biotinidase deficiency: A 30-year single center experience

by Porta, Francesco, Pagliardini, Veronica, Celestino, Isabella, Pavanello, Enza, Pagliardini, Severo, Guardamagna, Ornella, Ponzone, Alberto, Spada, Marco
Published in Mol Genet Metab Rep (2017)

Bone Impairment in Phenylketonuria Is Characterized by Circulating Osteoclast Precursors and Activated T Cell Increase

by Roato, Ilaria, Porta, Francesco, Mussa, Alessandro, D'Amico, Lucia, Fiore, Ludovica, Garelli, Davide, Spada, Marco, Ferracini, Riccardo
Published 2010

The waterpolo shoulder paradigm: results of ultrasound surveillance at poolside

by Galluccio, Felice, Bellucci, Eleonora, Porta, Francesco, Tofani, Lorenzo, De Paulis, Amato, Bianchedi, Diana, Barskova, Tatiana, Matucci-Cerinic, Marco
Published in BMJ Open Sport Exerc Med (2017)

Comparison of three treatment protocols with intra-articular low or intermediate molecular weight hyaluronic acid in early symptomatic knee osteoarthritis

by Galluccio, Felice, D’Angela, Daniela, Polistena, Barbara, Porta, Francesco, Barskova, Tatiana, Tofani, Lorenzo, Spandonaro, Federico, Matucci-Cerinic, Marco
Published in Ther Adv Musculoskelet Dis (2021)

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

by Lovera, Cristina, Porta, Francesco, Caciotti, Anna, Catarzi, Serena, Cassanello, Michela, Caruso, Ubaldo, Gallina, Maria Rita, Morrone, Amelia, Spada, Marco
Published 2012

Ultrasound-guided interventions during the COVID-19 pandemic – a new challenge

by Allam, Abdallah El-Sayed, Ergonenc, Tolga, Martos, Alvaro Garcia, Perez, Mario Fajardo, Perdisa, Francesco, Porta, Francesco, Serrano, Simão, Tognù, Andrea, Galluccio, Felice
Published in Am J Phys Med Rehabil (2020)

A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency

by Santarelli, Francesca, Cassanello, Michela, Enea, Ausilia, Poma, Francesca, D'Onofrio, Valentina, Guala, Giovanna, Garrone, Giangiacomo, Puccinelli, Paola, Caruso, Ubaldo, Porta, Francesco, Spada, Marco
Published 2013

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

by Calvo, Pier Luigi, Spada, Marco, Rabbone, Ivana, Pinon, Michele, Porta, Francesco, Cisarò, Fabio, Reggiani, Stefania, Cefalù, Angelo B., Sturiale, Luisella, Garozzo, Domenico, Lefeber, Dirk J., Jaeken, Jaak
Published in JIMD Rep (2017)

Real-Time Multiscale Monitoring and Tailoring of Graphene Growth on Liquid Copper

by Jankowski, Maciej, Saedi, Mehdi, La Porta, Francesco, Manikas, Anastasios C., Tsakonas, Christos, Cingolani, Juan S., Andersen, Mie, de Voogd, Marc, van Baarle, Gertjan J. C., Reuter, Karsten, Galiotis, Costas, Renaud, Gilles, Konovalov, Oleg V., Groot, Irene M. N.
Published in ACS Nano (2021)

Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study

by Spada, Marco, Porta, Francesco, Righi, Dorico, Gazzera, Carlo, Tandoi, Francesco, Ferrero, Ivana, Fagioli, Franca, Sanchez, Maria Beatriz Herrera, Calvo, Pier Luigi, Biamino, Elisa, Bruno, Stefania, Gunetti, Monica, Contursi, Cristina, Lauritano, Carola, Conio, Alessandra, Amoroso, Antonio, Salizzoni, Mauro, Silengo, Lorenzo, Camussi, Giovanni, Romagnoli, Renato
Published in Stem Cell Rev Rep (2019)

OMERACT agreement and reliability study of ultrasonographic elementary lesions in osteoarthritis of the foot

by Zabotti, Alen, Filippou, Georgios, Canzoni, Marco, Adinolfi, Antonella, Picerno, Valentina, Carrara, Greta, Balint, Peter, Bruyn, George A, D'Agostino, Maria Antonietta, Damjanov, Nemanja, Delle Sedie, Andrea, Filippucci, Emilio, Gonzalez Fernandez, Maria Luz, Hammer, Hilde Berner, Karim, Zunaid, Mandl, Peter, Moller, Ingrid, Morales Lozano, Maria Rosario, Naredo, Esperanza, Porta, Francesco, Sakellariou, Garifallia, Terslev, Lene, Scirè, Carlo Alberto, Iagnocco, Annamaria
Published in RMD Open (2019)

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

by Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.
Published in Am J Hum Genet (2016)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

by Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Published in Orphanet J Rare Dis (2020)

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

by Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Published in Orphanet J Rare Dis (2020)

Development and First Validation of a Disease Activity Score for Gout

by Scirè, Carlo A., Carrara, Greta, Viroli, Cinzia, Cimmino, Marco A., Taylor, William J., Manara, Maria, Govoni, Marcello, Salaffi, Fausto, Punzi, Leonardo, Montecucco, Carlomaurizio, Matucci‐Cerinic, Marco, Minisola, Giovanni, Ariani, Alarico, Galossi, Alessandra, Lauriti, Ciro, Fracassi, Elena, Idolazzi, Luca, Bardelli, Marco, Selvi, Enrico, Tirri, Enrico, Furini, Federica, Inverardi, Flora, Calabrò, Andrea, Porta, Francesco, Bittelli, Raffaele, Venturino, Francesco, Capsoni, Franco, Prevete, Immacolata, Sebastiani, Giandomenico, Selmi, Carlo, Fabbriciani, Gianluigi, D'Avola, Giovanni, Botticella, Giulia, Serale, Francesca, Seminara, Giulia, D'Alessandro, Giuseppe, Santo, Leonardo, Longato, Lorena, Zaccara, Eleonora, Sinigaglia, Luigi, Atteritano, Marco, Broggini, Marco, Caprioli, Marta, Favero, Marta, Sallì, Salvatore, Scarati, Marco, Parisi, Simone, Malavolta, Nazzarena, Corvaglia, Stefania, Scarpato, Salvatore, Veneto, Vittorio
Published in Arthritis Care Res (Hoboken) (2016)

The Genetic Landscape and Epidemiology of Phenylketonuria

by Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A.F., Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E., Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I., Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V., Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad
Published in Am J Hum Genet (2020)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

by Groeneweg, Stefan, van Geest, Ferdy S, Abaci, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautem, Armour, Christine, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castaglioni, Claudia, Castellotti, Barbara, Chatterjee, Krishna, de Coo, Irenaeus FM, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein HG, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Lorea, Cláudia Fernandes, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Koolen, David, Konrad, Daniel, Krude, Heiko, Lawson–Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, Lourenço, Charles Marques, McGowan, Anne, Mericq, Veronica, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, de Oliveira Poswar, Fabiano, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba Seven, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou AM, 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
Published in Lancet Diabetes Endocrinol (2020)