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Affichage: 16 résultats.
    • Article de périodique
    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)
    • Article de périodique
    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
    Coutelier, Marie[UCL] Goizet, Cyril Durr, Alexandra Habarou, Florence Morais, Sara Dionne-Laporte, Alexandre Tao, Feifei Konop, Juliette Stoll, Marion Charles, Perrine Jacoupy, Maxime Matusiak, Raphaël Alonso, Isabel Tallaksen, Chantal Mairey, Mathilde Kennerson, Marina Gaussen, Marion Schule, Rebecca Janin, Maxime Morice-Picard, Fanny Durand, Christelle M Depienne, Christel Calvas, Patrick Coutinho, Paula Saudubray, Jean-Marie Rouleau, Guy Brice, Alexis Nicholson, Garth Darios, Frédéric Loureiro, José L Zuchner, Stephan Ottolenghi, Chris Mochel, Fanny Stevanin, Giovanni (2015) Brain : a journal of neurology — Vol. 138, no.8, p. 2191-2205 (2015)
    • Article de périodique
    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)
    • Article de périodique
    Hyperpipecolic acidaemia: A diagnostic tool for peroxisomal disorders
    Peduto, Antonella Baumgartner, Matthias R. Verhoeven, Nanda M. Rabier, Daniel Spada, Marco Nassogne, Marie-Cécile[UCL] Poll-The, Bwee-Tien T. Bonetti, Giovanni Jakobs, Cornelis Saudubray, Jean-Marie (2004) Molecular Genetics and Metabolism — Vol. 82, no. 3, p. 224-230 (2004)
    • Article de périodique
    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)
    • Article de périodique
    Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl
    Nassogne, Marie-Cécile[UCL] Commare, Marie-Christine Lellouch-Tubiana, Arielle Emond, Sophie Zerah, Michel Caillaud, Catherine Hertz-Pannier, Lucie Saudubray, Jean-Marie (2003) American Journal of Neuroradiology — Vol. 24, no. 5, p. 840-842 (2003)
    • Article de périodique
    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)
    • Article de périodique
    BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism.
    Cosgrove, Karen E Antoine, Marie-Hélène Lee, Anne T Barnes, Philippa D de Tullio, Pascale Clayton, Peter McCloy, Rory De Lonlay, Pascal Nihoul-Fékété, Claire Robert, Jean-Jacques Saudubray, Jean-Marie Rahier, Jacques[UCL] Lindley, Keith J Hussain, Khalid Aynsley-Green, Al Pirotte, Bernard Lebrun, Philippe[UCL] Dunne, Mark J (2002) The Journal of clinical endocrinology and metabolism — Vol. 87, no. 11, p. 4860-4868 (2002)
    • Article de périodique
    Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism
    Beltrand, Jacques Caquard, Marylène Arnoux, Jean-Baptiste Laborde, Kathleen Velho, Gilberto Verkarre, Virginie Rahier, Jacques[UCL] Brunelle, Francis Nihoul-Fékété, Claire Saudubray, Jean-Marie Robert, Jean-Jacques De Lonlay, Pascale (2012) Diabetes Care — Vol. 35, no. 2, p. 198-203 (2012)
    • Monographie
    Inborn metabolic diseases : diagnosis and treatment
    Fernandes, John Saudubray, Jean-Marie Van den Berghe, Georges[UCL] Walter, John H. (2006)
    • Article de périodique
    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)
    • Article de périodique
    Hyperinsulinemic hypoglycemia in children.
    de Lonlay, P Giurgea, Irina Robert, Jean-Jacques Fournet, Jean-Christophe Touati, Guy Nihoul-Fékété, Claire Brunelle, Francis Jaubert, Francis Rahier, Jacques[UCL] Sempoux, Christine[UCL] Junien, Claudine Saudubray, Jean-Marie Dunne, Mark Otonkoski, Timo Ribeiro, Maria Bellané-Chantelot, Christine (2004) Annales d'endocrinologie — Vol. 65, no. 1, p. 96-8 (2004)
    • Article de périodique
    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)
    • Article de périodique
    Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome.
    Nassogne, Marie-Cécile[UCL] Sharrard, Mark Hertz-Pannier, Lucie Armengaud, Didier Touati, Guy Delonlay-Debeney, Pascale Zerah, Michel Brunelle, Francis Saudubray, Jean-Marie (2002) Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery — Vol. 18, no. 12, p. 729-731 (2002)
    • Article de périodique
    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)
    • Article de périodique
    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)