Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance
Debray, François-Guillaume, Seyssel, Kevin, Fadeur, Marjorie, Tappy, Luc, Paquot, Nicolas, Tran, Christel
Published in Clinical nutrition (Edinburgh, Scotland) (01.06.2021)
Published in Clinical nutrition (Edinburgh, Scotland) (01.06.2021)
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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
Simons, Cas, Rash, Lachlan D, Crawford, Joanna, Ma, Linlin, Cristofori-Armstrong, Ben, Miller, David, Ru, Kelin, Baillie, Gregory J, Alanay, Yasemin, Jacquinet, Adeline, Debray, François-Guillaume, Verloes, Alain, Shen, Joseph, Yesil, Gözde, Guler, Serhat, Yuksel, Adnan, Cleary, John G, Grimmond, Sean M, McGaughran, Julie, King, Glenn F, Gabbett, Michael T, Taft, Ryan J
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
Debray, François-Guillaume, Stümpfig, Claudia, Vanlander, Arnaud V., Dideberg, Vinciane, Josse, Claire, Caberg, Jean-Hubert, Boemer, François, Bours, Vincent, Stevens, René, Seneca, Sara, Smet, Joél, Lill, Roland, van Coster, Rudy
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
Debray, François-Guillaume, Lambert, Marie, Chevalier, Isabelle, Robitaille, Yves, Decarie, Jean-Claude, Shoubridge, Eric A, Robinson, Brian H, Mitchell, Grant A
Published in Pediatrics (Evanston) (01.04.2007)
Published in Pediatrics (Evanston) (01.04.2007)
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Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function
Ruaud, Lyse, Rice, Gillian I., Cabrol, Christelle, Piard, Juliette, Rodero, Mathieu, Eyk, Lien, Boucher‐Brischoux, Elise, Noordhout, Alain Maertens, Maré, Ricardo, Scalais, Emmanuel, Pauly, Fernand, Debray, François‐Guillaume, Dobyns, William, Uggenti, Carolina, Park, Ji Woo, Hur, Sun, Livingston, John H., Crow, Yanick J., Maldergem, Lionel
Published in Human mutation (01.08.2018)
Published in Human mutation (01.08.2018)
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Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic Acidosis
Debray, Francois-Guillaume, Mitchell, Grant A, Allard, Pierre, Robinson, Brian H, Hanley, James A, Lambert, Marie
Published in Clinical chemistry (Baltimore, Md.) (01.05.2007)
Published in Clinical chemistry (Baltimore, Md.) (01.05.2007)
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Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
Everard, Emilie, Laeremans, Hilde, Boemer, François, Marie, Sandrine, Vincent, Marie-Françoise, Dewulf, Joseph P., Debray, François-Guillaume, De Laet, Corinne, Nassogne, Marie-Cécile
Published in European journal of paediatric neurology (01.03.2024)
Published in European journal of paediatric neurology (01.03.2024)
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Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
Debray, François-Guillaume, Damjanovic, Katarina, Rosset, Robin, Mittaz-Crettol, Lauréane, Roux, Clothilde, Braissant, Olivier, Barbey, Frédéric, Bonafé, Luisa, De Bandt, Jean-Pascal, Tappy, Luc, Paquot, Nicolas, Tran, Christel
Published in The American journal of clinical nutrition (01.08.2018)
Published in The American journal of clinical nutrition (01.08.2018)
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Surprising causes of C5-carnitine false positive results in newborn screening
Boemer, François, Schoos, Roland, de Halleux, Virginie, Kalenga, Masendu, Debray, François-Guillaume
Published in Molecular genetics and metabolism (01.01.2014)
Published in Molecular genetics and metabolism (01.01.2014)
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Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Feillet, François, Muntau, Ania C., Debray, François-Guillaume, Lotz-Havla, Amelie S., Puchwein-Schwepcke, Alexandra, Fofou-Caillierez, Ma’atem Béatrice, van Spronsen, Francjan, Trefz, Fritz Friedrich
Published in Journal of inherited metabolic disease (01.09.2014)
Published in Journal of inherited metabolic disease (01.09.2014)
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Early infantile cardiomyopathy and liver disease: A multisystemic disorder caused by congenital lipodystrophy
Debray, François-Guillaume, Baguette, Christel, Colinet, Stéphanie, Van Maldergem, Lionel, Verellen-Dumouin, Christine
Published in Molecular genetics and metabolism (01.06.2013)
Published in Molecular genetics and metabolism (01.06.2013)
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How to recognize Cowden syndrome: A novel PTEN mutation description
Delannoy, Pauline, Debray, François Guillaume, Verloes, Alain, Beckers, Albert, Valdes-Socin, Hernan
Published in Annales d'endocrinologie (01.07.2017)
Published in Annales d'endocrinologie (01.07.2017)
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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
HILTON, Emma, JOHNSTON, Jennifer, KOSAKI, Kenjiro, MANOUVRIER, Sylvie, BOUTE, Odile, PERVEEN, Rahat, LAW, Caroline, MOORE, Anthony, FITZPATRICK, David, LEMKE, Johannes, FELLMANN, Florence, DEBRAY, François-Guillaume, WHALEN, Sandra, DASTOT-LE-MOAL, Florence, GERARD, Marion, MARTIN, Josiane, BITOUN, Pierre, GOOSSENS, Michel, VERLOES, Alain, SCHINZEL, Albert, BARTHOLDI, Deborah, BARDAKJIAN, Tanya, HAY, Beverly, OKAMOTO, Nobuhiko, JENNY, Kim, JOHNSTON, Kathreen, LYONS, Michael, BELMONT, John W, BIESECKER, Leslie G, GIURGEA, Irina, BLACK, Graeme, HATSUKAWA, Yoshikazu, NISHIO, Juntaro, KOHARA, Hiroshi, HIRANO, Yoshiko, MIZUNO, Seiji, TORII, Chiharu
Published in European journal of human genetics : EJHG (01.10.2009)
Published in European journal of human genetics : EJHG (01.10.2009)
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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene
Jacquinet, Adeline, Verloes, Alain, Callewaert, Bert, Coremans, Christine, Coucke, Paul, de Paepe, Anne, Kornak, Uwe, Lebrun, Frederic, Lombet, Jacques, Piérard, Gérald E, Robinson, Peter N, Symoens, Sofie, Van Maldergem, Lionel, Debray, François-Guillaume
Published in European journal of medical genetics (01.04.2014)
Published in European journal of medical genetics (01.04.2014)
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POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.
Published in Annals of clinical and translational neurology (01.01.2017)
Published in Annals of clinical and translational neurology (01.01.2017)
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Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses
Segers, Karin, Pierquin, Genevieve, Gaillez, Stephanie, Delbecque, Katty, Retz, Maria, Tebache, Malek, Waterham, Hans, Wanders, Ronald, Ferdinandusse, Sacha, Debray, François-Guillaume
Published in Prenatal diagnosis (01.02.2013)
Published in Prenatal diagnosis (01.02.2013)
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Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock
Ameloot, Koen, MD, Vlasselaers, Dirk, MD, Dupont, Matthias, MD, Meersseman, Wouter, MD, PhD, Desmet, Lars, MD, PhD, Vanhaecke, Johan, MD, PhD, Vermeer, Nina, MD, Meyns, Bart, MD, PhD, Pirenne, Jacques, MD, PhD, Cassiman, David, MD, PhD, De Laet, Corinne, MD, Goyens, Philippe, MD, PhD, Malekzadeh-Milan, Sophie G., MD, Biarent, Dominique, MD, Meulemans, Ann, MD, PhD, Debray, François-Guillaume, MD, PhD
Published in The Journal of pediatrics (01.05.2011)
Published in The Journal of pediatrics (01.05.2011)
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Rice, Gillian I, Meyzer, Candice, Bouazza, Naïm, Hully, Marie, Boddaert, Nathalie, Semeraro, Michaela, Zeef, Leo A.H, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Llibre, Alba, Baek, Jinmi, Sambe, Mame N, Henry, Elodie, Jolaine, Valerie, Barnerias, Christine, Barth, Magalie, Belot, Alexandre, Cances, Claude, Debray, François-Guillaume, Doummar, Diane, Frémond, Marie-Louise, Kitabayashi, Naoki, Lepelley, Alice, Levrat, Virginie, Melki, Isabelle, Meyer, Pierre, Nougues, Marie-Christine, Renaldo, Florence, Rodero, Mathieu P, Rodriguez, Diana, Roubertie, Agathe, Seabra, Luis, Uggenti, Carolina, Abdoul, Hendy, Treluyer, Jean-Marc, Desguerre, Isabelle, Blanche, Stéphane, Crow, Yanick J
Published in The New England journal of medicine (06.12.2018)
Published in The New England journal of medicine (06.12.2018)
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Free Sialic Acid Storage Disease Mimicking Cerebral Palsy and Revealed by Blood Smear Examination
Debray, François-Guillaume, MD, PhD, Lefebvre, Caroline, MD, Colinet, Stéphanie, MD, Segers, Karin, PhD, Stevens, René, MD
Published in The Journal of pediatrics (2011)
Published in The Journal of pediatrics (2011)
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