Metabolic progression to clinical phenotype in classic Fabry disease

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

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

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

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

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

The waterpolo shoulder paradigm: results of ultrasound surveillance at poolside

door Galluccio, Felice, Bellucci, Eleonora, Porta, Francesco, Tofani, Lorenzo, De Paulis, Amato, Bianchedi, Diana, Barskova, Tatiana, Matucci-Cerinic, Marco
Gepubliceerd 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

door Galluccio, Felice, D’Angela, Daniela, Polistena, Barbara, Porta, Francesco, Barskova, Tatiana, Tofani, Lorenzo, Spandonaro, Federico, Matucci-Cerinic, Marco
Gepubliceerd 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

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

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

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

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

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

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

door 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
Gepubliceerd in JIMD Rep (2017)

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

door 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.
Gepubliceerd in ACS Nano (2021)

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

door 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
Gepubliceerd in Stem Cell Rev Rep (2019)

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

door 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
Gepubliceerd in RMD Open (2019)

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

door 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.
Gepubliceerd in Am J Hum Genet (2016)

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

door 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
Gepubliceerd in Orphanet J Rare Dis (2020)

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

door 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
Gepubliceerd in Orphanet J Rare Dis (2020)

Development and First Validation of a Disease Activity Score for Gout

door 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
Gepubliceerd in Arthritis Care Res (Hoboken) (2016)

The Genetic Landscape and Epidemiology of Phenylketonuria

door 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
Gepubliceerd in Am J Hum Genet (2020)

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

door 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
Gepubliceerd in Lancet Diabetes Endocrinol (2020)