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All Publications

Displaying 24 results.
    • Journal article
    Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinism.
    Khen-Dunlop, Naziha Capito, Carmen Valayannopoulos, Vassili Elie, Caroline Ribeiro, Maria-Joao Rahier, Jacques[UCL] Jaubert, Francis Robert, Jean-Jacques Aigrain, Yves de Lonlay, Pascale Fékété, Claire N (2008) Diabetes care — Vol. 31, no. 10, p. e71 (2008)
    • Journal article
    Familial Focal Congenital Hyperinsulinism.
    Ismail, Dunia Rahier, Jacques[UCL] Smith, Virpi V. de Lonlay, Pascale Ribeiro, Maria-Joao Blankenstein, Oliver Flanagan, Sarah E Bellanné-Chantelot, Christine Verkarre, Virginie Aigrain, Yves Pierro, Agostino Ellard, Sian Hussain, Khalid (2010) The Journal of clinical endocrinology and metabolism — Vol. 96, no. 1, p. 24-8 (2011)
    • 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
    Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
    Giurgea, Irina Laborde, Kathleen Touati, Guy Bellanné-Chantelot, Christine Nassogne, Marie-Cécile[UCL] Sempoux, Christine[UCL] Jaubert, Francis Khoa, Nguyen Chigot, Valerie Rahier, Jacques[UCL] Brunelle, Francis Nihoul-Fékété, Claire Dunne, Mark J Stanley, Charles Saudubray, Jean-Marie Robert, Jean-Jacques de Lonlay, Pascale (2004) The Journal of clinical endocrinology and metabolism — Vol. 89, no. 2, p. 925-959 (2004)
    • Journal article
    Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
    Nota, Benjamin Struys, Eduard A Pop, Ana Jansen, Erwin E Fernandez Ojeda, Matilde R Kanhai, Warsha A Kranendijk, Martijn van Dooren, Silvy J M Bevova, Marianna R Sistermans, Erik A Nieuwint, Aggie W M Barth, Magalie Ben-Omran, Tawfeg Hoffmann, Georg F de Lonlay, Pascale McDonald, Marie T Meberg, Alf Muntau, Ania C Nuoffer, Jean-Marc Parini, Rossella Read, Marie-Hélène Renneberg, Axel Santer, René Strahleck, Thomas Van Schaftingen, Emile[UCL] van der Knaap, Marjo S Jakobs, Cornelis Salomons, Gajja S (2013) American Journal of Human Genetics — Vol. 92, no.4, p. 627-31 (2013)
    • Journal article
    The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
    Sempoux, Christine[UCL] Guiot, Yves[UCL] Dahan, Karin[UCL] Moulin, Pierre[UCL] Stevens, Martine[UCL] Lambot, Virginie[UCL] de Lonlay, Pascale Fournet, Jean-Christophe Junien, Claudine Jaubert, Francis Nihoul-Fekete, Claire Saudubray, Jean-Marie Rahier, Jacques[UCL] (2003) Diabetes — Vol. 52, no. 3, p. 784-794 (2003)
    • Journal article
    Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    Paquay, Stéphanie[UCL] 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 (2017) Journal of Inherited Metabolic Disease — Vol. 40, no.3, p. 415-422 (2017)
    • Journal article
    Molecular mechanisms of neonatal hyperinsulinism.
    Giurgea, Irina Bellanné-Chantelot, Christine Ribeiro, Maria Hubert, Laurence Sempoux, Christine[UCL] Robert, Jean-Jacques Blankenstein, Oliver Hussain, Kahlid Brunelle, Francis Nihoul-Fékété, Claire Rahier, Jacques[UCL] Jaubert, Francis de Lonlay, Pascale (2006) Hormone research — Vol. 66, no. 6, p. 289-96 (2006)
    • Speech
    Basal ganglia involvement in mitochondrial acetoacetyl-CoA thiolase deficiency
    Paquay, Stéphanie[UCL] de Lonlay, Pascale Dobbelaere, Dris Fouilhoux, Alain Guffon, Nathalie Labarthe, François Mention, Karine Touati, Guy Valayannopoulos, Vassili Vianey-Saban, Christine Schiff, Manuel (2015) European Metabolic Group Conference — Venice
    • Journal article
    Facial appearance in persistent hyperinsulinemic hypoglycemia.
    de Lonlay, Pascale Cormier-Daire, Valérie Amiel, Jeanne Touati, Guy Goldenberg, Alice Fournet, Jean-Christophe Brunelle, Francis Nihoul-Fékété, Claire Rahier, Jacques[UCL] Junien, Claudine Robert, Jean-Jacques Saudubray, Jean-Marie (2002) American journal of medical genetics — Vol. 111, no. 2, p. 130-3 (2002)
    • Journal article
    Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
    de Lonlay, Pascale Fournet, Jean-Christophe Rahier, Jacques[UCL] Gross-Morand, Marie-Sylvie Poggi-Travert, Florence Foussier, Valérie Bonnefont, Jean-Paul Brusset, Marie-Claire Brunelle, Francis Robert, Jean-Jacques Nihoul-Fékété, Claire Saudubray, Jean-Marie Junien, Claudine (1997) Journal of Clinical Investigation — Vol. 100, no. 4, p. 802-807 (1997)
    • Journal article
    Congenital hyperinsulinism
    Arnoux, Jean-Baptiste Rahier, Jacques[UCL] Sempoux, Christine[UCL] de Lonlay, Pascale Ribeiro, Maria-Joao Hussain, Khalid Blankenstein, Oliver Mohnike, Klaus Valayannopoulos, Vassili Robert, Jean-Jacques Bellanne, Christine Verkarre, Virginie Aigrain, Yves Jaubert, Francis Brunelle, Francis Nihoul-Fekete, Claire (2010) Early Human Development — Vol. 86, no. 5, p. 287-94 (2010)
    • Speech
    Basal ganglia involvement in mitochondrial acetoacetyl-CoA thiolase deficiency
    Paquay, Stéphanie[UCL] de Lonlay, Pascale Dobbelaere, Dris Fouilhoux, Alain Guffon, Nathalie Labarthe, François Mention, Karine Touati, Guy Valayannopoulos, Vassili Vianey-Saban, Christine Schiff, Manuel (2015) Society for the Study of inborn Errors of Metabolism — Lyon, France
    • Journal article
    Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy.
    Giurgea, Irina Ulinski, Tim Touati, Guy Sempoux, Christine[UCL] Mochel, Fanny Brunelle, Francis Saudubray, Jean-Marie Fekete, Claire de Lonlay, Pascale (2005) Pediatrics — Vol. 116, no.1, p. e145-e148 (2005)
    • 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
    Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
    de Lonlay, Pascale Fournet, Jean-Christophe Touati, Guy Groos, Marie-Sylvie Martin, Delphine Sevin, Caroline Delagne, Véronique Mayaud, Christine Chigot, Valérie Sempoux, Christine[UCL] Brusset, Marie-Claire Laborde, Kathleen Bellane-Chantelot, Christine Vassault, Anne Rahier, Jacques[UCL] Junien, Claudine Brunelle, Francis Nihoul-Fékété, Claire Saudubray, Jean-Marie Robert, Jean-Jacques (2002) European journal of pediatrics — Vol. 161, no. 1, p. 37-48 (2002)
    • Journal article
    Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
    de Lonlay, Pascale Simon-Carre, Aurore Ribeiro, Maria-João Boddaert, Nathalie Giurgea, Irina Laborde, Kathleen Bellanné-Chantelot, Christine Verkarre, Virginie Polak, Michel Rahier, Jacques[UCL] Syrota, André Seidenwurm, David Nihoul-Fékété, Claire Robert, Jean-Jacques Brunelle, Francis Jaubert, Francis (2006) Journal of Clinical Endocrinology and Metabolism — Vol. 91, no. 3, p. 933-940 (2006)
    • Journal article
    In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.
    Henquin, Jean-Claude[UCL] Nenquin, Myriam[UCL] Sempoux, Christine[UCL] Guiot, Yves[UCL] Bellanné-Chantelot, Christine Otonkoski, Timo de Lonlay, Pascale Nihoul-Fékété, Claire Rahier, Jacques[UCL] (2011) Journal of Clinical Investigation — Vol. 121, no. 10, p. 3932-3942 (2011)
    • Journal article
    Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
    Posset, Roland Garbade, Sven F. Gleich, Florian Gropman, Andrea L. de Lonlay, Pascale Hoffmann, Georg F. Garcia-Cazorla, Angeles Nagamani, Sandesh C. S. Baumgartner, Matthias R. Schulze, Andreas Dobbelaere, Dries Yudkoff, Marc Kölker, Stefan Zielonka, Matthias Urea Cycle Disorders Consortium (UCDC) European registry and network for Intoxication type Metabolic Diseases (E-IMD) Sokal, Etienne[UCL] (2020) Scientific Reports — Vol. 10, no. 1, p. 11948 [1-13] (2020)
    • Journal article
    The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
    Giurgea, Irina Sempoux, Christine[UCL] Bellanné-Chantelot, Christine Ribeiro, Maria Hubert, Laurence Boddaert, Nathalie Saudubray, Jean-Marie Robert, Jean-Jacques Brunelle, Francis Rahier, Jacques[UCL] Jaubert, Francis Nihoul-Fékété, Claire de Lonlay, Pascale (2006) The Journal of clinical endocrinology and metabolism — Vol. 91, no. 10, p. 4118-23 (2006)
    • Journal article
    The surgical management of atypical forms of congenital hyperinsulinism
    Capito, Carmen de Lonlay, Pascale Verkarre, Virginie Jaubert, Francis Rahier, Jacques[UCL] Nihoul-Fékété, Claire Aigrain, Yves (2011) Seminars in Pediatric Surgery — Vol. 20, no. 1, p. 54-55 (2011)
    • 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
    Congenital disorders of glycosylation (CDG): Quo vadis?
    Péanne, Romain de Lonlay, Pascale Foulquier, François Kornak, Uwe Lefeber, Dirk J Morava, Eva Pérez, Belén Seta, Nathalie Thiel, Christian Van Schaftingen, Emile[UCL] Matthijs, Gert Jaeken, Jaak (2018) European journal of medical genetics — Vol. 61, no.11, p. 643-663 (2018)
    • Journal article
    Hyperinsulinisme chez l'enfant: nouveaux concepts--rôle de l'imagerie.
    Brunelle, Francis Ribeiro, Maria Boddaert, Nathalie Nihoul-Fekete, Claire Jaubert, Francis Rahier, Jacques[UCL] de Lonlay, Pascale (2008) Bulletin de l'Académie nationale de médecine — Vol. 192, no. 1, p. 59-70; discussion 71-2 (2008)