ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism
Dewulf, Joseph P., Paquay, Stéphanie, Marbaix, Etienne, Achouri, Younès, Van Schaftingen, Emile, Bommer, Guido T.
Published in The Journal of biological chemistry (01.10.2021)
Published in The Journal of biological chemistry (01.10.2021)
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Journal Article
ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation
Paquay, Stéphanie, Duraffourd, Julia, Bury, Marina, Heremans, Isaac P., Caligiore, Francesco, Gerin, Isabelle, Stroobant, Vincent, Jacobs, Jean, Pinon, Aymeric, Graff, Julie, Vertommen, Didier, Van Schaftingen, Emile, Dewulf, Joseph P., Bommer, Guido T.
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
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Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients
Smeets, Nathalie, Gheldof, Alexander, Dequeker, Bart, Poleur, Margaux, Maldonado Slootjes, Sofia, Van Parijs, Vinciane, Deconinck, Nicolas, Dontaine, Pauline, Alonso-Jimenez, Alicia, De Bleecker, Jan, De Ridder, Willem, Herdewyn, Sarah, Paquay, Stéphanie, Vanlander, Arnaud, De Waele, Liesbeth, Peirens, Geertrui, Beysen, Diane, Claeys, Kristl G., Dubuisson, Nicolas, Hansen, Isabelle, Remiche, Gauthier, Seneca, Sara, Bissay, Véronique, Régal, Luc
Published in Pediatric neurology (01.09.2024)
Published in Pediatric neurology (01.09.2024)
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Journal Article
Childhood hearing loss is a key feature of CAPOS syndrome: A case report
Paquay, Stéphanie, Wiame, Elsa, Deggouj, Naima, Boschi, Antonella, De Siati, Romolo Daniele, Sznajer, Yves, Nassogne, Marie-Cécile
Published in International journal of pediatric otorhinolaryngology (01.01.2018)
Published in International journal of pediatric otorhinolaryngology (01.01.2018)
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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, Schiff, Manuel
Published in Journal of inherited metabolic disease (01.05.2017)
Published in Journal of inherited metabolic disease (01.05.2017)
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Journal Article
Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child
Paquay, Stéphanie, Benoit, Valérie, Wetzburger, Catherine, Cordonnier, Monique, Meire, Françoise, Charon, Anne, Roland, Dominique, Van Coster, Rudy, Nassogne, Marie-Cécile, Maystadt, Isabelle
Published in Journal of child neurology (01.08.2014)
Published in Journal of child neurology (01.08.2014)
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"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency
Stephanie, Paquay, Catherine, Barrea, Thierry, Sluysmans, Jean-Luc, Vachiery, Isabelle, Loeckx, Sara, Seneca, Christophe, Vô, Marie-Cecile, Nassogne
Published in Annals of pediatric cardiology (01.09.2019)
Published in Annals of pediatric cardiology (01.09.2019)
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Journal Article
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome
Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Published in Molecular genetics and metabolism reports (01.06.2016)
Published in Molecular genetics and metabolism reports (01.06.2016)
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Journal Article
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Blickhäuser, Beryll, Stenton, Sarah L, Neuhofer, Christiane M, Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A, McFarland, Robert, Fang, Fang, La Morgia, Chiara, Paquay, Stéphanie, Nassogne, Marie Cécile, Ghezzi, Daniele, Lamperti, Costanza, Wortmann, Saskia, Poulton, Jo, Klopstock, Thomas, Prokisch, Holger
Published in Brain (London, England : 1878) (13.03.2024)
Published in Brain (London, England : 1878) (13.03.2024)
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Journal Article
"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency
Stéphanie, Paquay, Catherine, Barrea, Thierry, Sluysmans, Jean-Luc, Vachiery, Isabelle, Loeckx, Sara, Seneca, Christophe, Vô, Marie-Cécile, Nassogne
Published in Annals of pediatric cardiology (01.09.2019)
Published in Annals of pediatric cardiology (01.09.2019)
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