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All Publications

Displaying 6 results.
    • Journal article
    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
    Kölker, Stefan Valayannopoulos, Vassili Burlina, Alberto B Sykut-Cegielska, Jolanta Wijburg, Frits A Teles, Elisa Leão Zeman, Jiri Dionisi-Vici, Carlo Barić, Ivo Karall, Daniela Arnoux, Jean-Baptiste Avram, Paula Baumgartner, Matthias R Blasco-Alonso, Javier Boy, S P Nikolas Rasmussen, Marlene Bøgehus Burgard, Peter Chabrol, Brigitte Chakrapani, Anupam Chapman, Kimberly Cortès I Saladelafont, Elisenda Couce, Maria L de Meirleir, Linda Dobbelaere, Dries Furlan, Francesca Gleich, Florian González, Maria Julieta Gradowska, Wanda Grünewald, Stephanie Honzik, Tomas Hörster, Friederike Ioannou, Hariklea Jalan, Anil Häberle, Johannes Haege, Gisela Langereis, Eveline de Lonlay, Pascale Martinelli, Diego Matsumoto, Shirou Mühlhausen, Chris Murphy, Elaine de Baulny, Hélène Ogier Ortez, Carlos Pedrón, Consuelo C Pintos-Morell, Guillem Pena-Quintana, Luis Ramadža, Danijela Petković Rodrigues, Esmeralda Scholl-Bürgi, Sabine Sokal, Etienne[UCL] Summar, Marshall L Thompson, Nicholas Vara, Roshni Pinera, Inmaculada Vives Walter, John H Williams, Monique Lund, Allan M Garcia-Cazorla, Angeles Garcia Cazorla, Angeles (2015) Journal of Inherited Metabolic Disease — Vol. 38, p. 1059-1074 (2015)
    • 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
    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
    Kölker, Stefan Garcia-Cazorla, Angeles Cazorla, Angeles Garcia Valayannopoulos, Vassili Lund, Allan M Burlina, Alberto B Sykut-Cegielska, Jolanta Wijburg, Frits A Teles, Elisa Leão Zeman, Jiri Dionisi-Vici, Carlo Barić, Ivo Karall, Daniela Augoustides-Savvopoulou, Persephone Aksglaede, Lise Arnoux, Jean-Baptiste Avram, Paula Baumgartner, Matthias R Blasco-Alonso, Javier Chabrol, Brigitte Chakrapani, Anupam Chapman, Kimberly I Saladelafont, Elisenda Cortès Couce, Maria L de Meirleir, Linda Dobbelaere, Dries Dvorakova, Veronika Furlan, Francesca Gleich, Florian Gradowska, Wanda Grünewald, Stephanie Jalan, Anil Häberle, Johannes Haege, Gisela Lachmann, Robin Laemmle, Alexander Langereis, Eveline de Lonlay, Pascale Martinelli, Diego Matsumoto, Shirou Mühlhausen, Chris de Baulny, Hélène Ogier Ortez, Carlos Peña-Quintana, Luis Ramadža, Danijela Petković Rodrigues, Esmeralda Scholl-Bürgi, Sabine Sokal, Etienne[UCL] Staufner, Christian Summar, Marshall L Thompson, Nicholas Vara, Roshni Pinera, Inmaculada Vives Walter, John H Williams, Monique Burgard, Peter (2015) Journal of Inherited Metabolic Disease — Vol. 38, p. 1041-1057 (2015)
    • Journal article
    Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
    Baumgartner, Matthias R Rabier, Daniel Nassogne, Marie-Cécile[UCL] Dufier, Jean-Louis Padovani, Jean-Paul Kamoun, Pierre Valle, David Saudubray, Jean-Marie (2005) European journal of pediatrics — Vol. 164, no.1, p. 31-36 (2005)
    • Journal article
    Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
    Lucienne, Marie Gerlini, Raffaele Rathkolb, Birgit Calzada-Wack, Julia Forny, Patrick Wueest, Stephan Kaech, Andres Traversi, Florian Forny, Merima Bürer, Céline Aguilar-Pimentel, Antonio Irmler, Martin Beckers, Johannes Sauer, Sven Kölker, Stefan Dewulf, Joseph P.[UCL] Bommer, Guido[UCL] Hoces, Daniel Gailus-Durner, Valerie Fuchs, Helmut Rozman, Jan Froese, D Sean Baumgartner, Matthias R de Angelis, Martin Hrabě (2023) Human molecular genetics — Vol. 32, no. 17, p. 2717-2734 (2023)