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Displaying 8 results.
    • Journal article
    Focal congenital hyperinsulinism managed by medical treatment: A diagnostic algorithm based on molecular genetic screening
    Maiorana, Arianna Dionisi-Vici, Carlo Henquin, Jean-Claude[UCL] Rahier, Jacques[UCL] De Ville De Goyet, Jean Grimaldi, Chiara Nichols, Colin G. Faletra, Flavio Francalanci, Paola Pizzoferro, Milena Rufini, Vittoria Boiani, Arianna Barbetti, Fabrizio (2014) Clinical Endocrinology — Vol. 81, no. 5, p. 679-688 (2014)
    • Journal article
    Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
    Nogueira, Célia Aiello, Chiara Cerone, Roberto Martins, Esmeralda Caruso, Ubaldo Moroni, Isabella Rizzo, Cristiano Diogo, Luísa Leão, Elisa Kok, Fernando Deodato, Federica Schiaffino, Maria Cristina Boenzi, Sara Danhaive, Olivier[UCL] Barbot, Clara Sequeira, Sílvia Locatelli, Mattia Santorelli, Filippo M Uziel, Graziella Vilarinho, Laura Dionisi-Vici, Carlo (2008) Molecular genetics and metabolism — Vol. 93, no.4, p. 475-480 (2008)
    • Journal article
    Phase I/II Trial of Liver Derived Mesenchymal Stem Cells in Pediatric Liver Based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-Derived Progenitor Cells (HepaStem®) in Urea Cycle Disorders and Crigler-Najjar Syndrome patients.
    Smets, Françoise[UCL] Dobbelaere, Dries McKiernan, Patrick Dionisi-Vici, Carlo Broué, Pierre Jacquemin, Emmanuel Lopes, Ana Isabel Gonçalves, Isabel Mandel, Hanna Pawlowska, Joanna Kamińska, Diana Shteyer, Eyal Torre, Giuliano Shapiro, Riki Eyskens, François Clapuyt, Philippe[UCL] Gissen, Paul Pariente, Danièle Grunewald, Stephanie Yudkoff, Marc Binda, Maria Mercedes Najimi, Mustapha[UCL] Belmonte, Nathalie Vos, Beatrice De Thonnard, Joelle Sokal, Etienne[UCL] (2019) Transplantation — Vol. 103, no. 9, p. 1903-1915 (2019)
    • Journal article
    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
    Huemer, Martina Diodato, Daria Martinelli, Diego Olivieri, Giorgia Blom, Henk Gleich, Florian Kölker, Stefan Kožich, Viktor Morris, Andrew A Seifert, Burkhardt Froese, D Sean Baumgartner, Matthias R Dionisi-Vici, Carlo EHOD consortium Martin, Carlos Alcalde Baethmann, Martina Ballhausen, Diana Blasco-Alonso, Javier Boy, Nikolas Bueno, Maria Burgos Peláez, Rosa Cerone, Roberto Chabrol, Brigitte Chapman, Kimberly A Couce, Maria Luz Crushell, Ellen Dalmau Serra, Jaime Diogo, Luisa Ficicioglu, Can García Jimenez, Maria Concepcion García Silva, Maria Teresa Gaspar, Ana Maria Gautschi, Matthias González-Lamuño, Domingo Gouveia, Sofia Grünewald, Stephanie Hendriksz, Chris Janssen, Mirian C H Jesina, Pavel Koch, Johannes Konstantopoulou, Vassiliki Lavigne, Christian Lund, Allan M Martins, Esmeralda G Meavilla Olivas, Silvia Mention, Karine Mochel, Fanny Mundy, Helen Murphy, Elaine Paquay, Stéphanie[UCL] Pedrón-Giner, Consuelo Ruiz Gómez, Maria Angeles Santra, Saikat Schiff, Manuel Schwartz, Ida Vanessa Scholl-Bürgi, Sabine Servais, Aude Skouma, Anastasia Tran, Christel Vives Piñera, Inmaculada Walter, John Weisfeld-Adams, James (2019) Journal of Inherited Metabolic Disease — Vol. 42, no.2, p. 333-352 (2019)
    • Journal article
    Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
    Kožich, Viktor Sokolová, Jitka Morris, Andrew A M Pavlíková, Markéta Gleich, Florian Kölker, Stefan Krijt, Jakub Dionisi-Vici, Carlo Baumgartner, Matthias R Blom, Henk J Huemer, Martina E-HOD consortium Paquay, Stéphanie[UCL] (2021) Journal of inherited metabolic disease — Vol. 44, no.3, p. 677-692 (2021)
    • Journal article
    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases
    Posset, Roland Garbade, Sven F. Boy, Nikolas Burlina, Alberto B. Dionisi-Vici, Carlo Dobbelaere, Dries Garcia-Cazorla, Angeles de Lonlay, Pascale Teles, Elisa Leão Vara, Roshni Mew, Nicholas Ah. Batshaw, Mark L. Baumgartner, Matthias R. McCandless, Shawn Seminara, Jennifer Summar, Marshall Hoffmann, Georg F. Kölker, Stefan Burgard, Peter Sokal, Etienne[UCL] (2019) Journal of Inherited Metabolic Disease — Vol. 42, no. 1, p. 93-106 (2019)
    • Journal article
    Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.
    Bellomo, Francesco Pugliese, Sara Cairoli, Sara Krohn, Patrick De Stefanis, Cristiano Raso, Roberto Rega, Laura Rita Taranta, Anna De Leo, Ester Ciolfi, Andrea Cicolani, Nicolò Petrini, Stefania Luciani, Alessandro Goffredo, Bianca Maria Porzio, Ottavia Devuyst, Olivier[UCL] Dionisi-Vici, Carlo Emma, Francesco (2024) Journal of the American Society of Nephrology : JASN — (2024)
    • Journal article
    The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
    Fatma Gokçay, Gulden Crushell, Ellen Ficicioglu, Can Ferreira, Carlos R Ferreira, Ana Cristina Falk, Marni J Distelmaier, Felix Dionisi-Vici, Carlo De Lonlay, Pascal Karaa, Amel Häberle, Johannes Janeiro, Patrícia Huemer, Martina Honzik, Tomas Hoffmann, Georg F Hoefele, Julia Hellenschmidt, Albrecht Heath, Oliver Lebigot, Elise Seher Kasapkara, Çiğdem Lamperti, Costanza Krumina, Zita Koch, Johannes Knerr, Ina Klopstock, Thomas Klepper, Joerg Kern, Ilse Oliveira, Anabela Liu, Zhimei Nassogne, Marie-Cecile[UCL] Mundy, Helen Molnar, Maria Judits Mendelsohn, Bryce McFarland, Robert Martinelli, Diego Maier, Esther M Rivera, Isabel Õunap, Katrin Repetto, Gabriela M Ramadža, Danijela P Plecko, Barbara Pichard, Samia Peters, Heidi Parikh, Sumit Panicucci, Chiara Striano, Pasquale Rodenburg, Richard J Steinbrucker, Katja Siri, Barbara Soares, Sérgia Smith, Wendy E Seidemann, Kathrin Schiff, Manuel Rossi, Alessandro Yildiz, Yilmaz Sykut-Cegielska, Jolanta Yaplito-Lee, Joy Woidy, Mathias van Konijnenburg, Eva Hoytema Kalkan Ucar, Sema Tsiakas, Kostas Taylor, Robert W Tal, Galit Wortmann, Saskia B Zenker, Martin Mayr, Johannes A Prokisch, Holger Brown, Garry K Meitinger, Thomas Sperl, Wolfgang Westphal, Dominik Zsidegh, Petra Merkevicius, Kajus Smirnov, Dmitrii Schlieben, Lea D Ganetzky, Rebecca Feichtinger, René G Jiang, Huafang Fang, Fang Ebihara, Tomohiro Murayama, Kei Ferrera, Giulia Ardissone, Anna Rokicki, Dariusz Wesol-Kucharska, Dorota Schröder, Sabine Bauer, Peter Bertoli-Avella, Aida Østergaard, Elsebeth Freisinger, Peter Janssen, Mirian C H Wagner, Matias Abouyousef, Omar Alhaddad, Bader AlAbdi, Lama Alkuraya, Fowzan Alston, Charlotte L Baghdasaryan, Anna Barca, Diana Barić, Ivo Bellusci, Marcello Bevot, Andrea Boltshauser, Eugen Borggraefe, Ingo Bouchereau, Juliette Bruno, Claudio Burnyte, Birute Calhoun, Amy Casas, Kari Coker, Mahmut (2025) Brain — (2025)