Ascites in infantile onset type II Sialidosis

por Tazi, Kaoutar, Guy‐Viterbo, Vanessa, Gheldof, Alexander, Empain, Aurélie, Paternoster, Anne, De Laet, Corinne
Publicado 2022

Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy

por Santalucia, Roberto, Vilain, Catheline, Soblet, Julie, De Laet, Corinne, Vuckovic, Aline, König, Jörg, Aeby, Alec
Publicado 2022

Irritability, Poor Feeding and Respiratory Alkalosis in Newborns: Think about Metabolic Emergencies. A Brief Summary of Hyperammonemia Management

por Del Re, Stefano, Empain, Aurélie, Vicinanza, Alfredo, Balasel, Ovidiu, Johansson, Anne-Britt, Stalens, Jean-Philippe, De Laet, Corinne
Publicado 2020

Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant

por D’Amico, Giovanna, De Laet, Corinne, Smits, Guillaume, Salik, Deborah, Deprez, Guillaume, Vilain, Catheline, Perlot, Pascale, Vicinanza, Alfredo
Publicado 2021

Shoshin Beriberi and Severe Accidental Hypothermia as Causes of Heart Failure in a 6-Year-Old Child: A Case Report and Brief Review of Literature

por Vicinanza, Alfredo, De Laet, Corinne, Rooze, Shancy, Willems, Ariane, Beretta-Piccoli, Xavier, Vens, Daphné, Voglet, Cédric, Jacquemart, Caroline, Massin, Martial, Biarent, Dominique
Publicado 2019

Recommendations for the management of tyrosinaemia type 1

por de Laet, Corinne, Dionisi-Vici, Carlo, Leonard, James V, McKiernan, Patrick, Mitchell, Grant, Monti, Lidia, de Baulny, Hélène Ogier, Pintos-Morell, Guillem, Spiekerkötter, Ute
Publicado 2013

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

por Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd C., DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan
Publicado 2018

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

por van Ginkel, Willem G., Jahja, Rianne, Huijbregts, Stephan C. J., Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, Körver-Keularts, Irene M. L. W., Goyens, Philippe J., McKiernan, Patrick J., van Spronsen, Francjan J.
Publicado 2016

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

por Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelie S., Munafo, Alain, Mould, Diane R., Moreau-Stucker, Flavie, Rogoff, Daniela
Publicado 2017

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

por van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M., Gissen, Paul, Goyens, Philippe J., McKiernan, Patrick J., Wilcox, Gisela, Morris, Andrew A. M., Jameson, Elisabeth A., Huijbregts, Stephan C. J., van Spronsen, Francjan J.
Publicado 2019

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

por Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin‐Hsiu, Cortès‐Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas
Publicado 2022

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

por Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Publicado 2014

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

por van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A. M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E. M., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., van Spronsen, Francjan J.
Publicado 2022