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Affichage: 11 résultats.
    • Article de périodique
    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)
    • 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)
    • Communication
    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
    • Communication
    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
    • 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
    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
    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
    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
    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
    Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
    Yverneau, Mathilde Leroux, Stéphanie Imbard, Apolline Gleich, Florian Arion, Alina Moreau, Caroline Nassogne, Marie-Cécile[UCL] Szymanowski, Marie Tardieu, Marine Touati, Guy Bueno, María Chapman, Kimberly A Chien, Yin-Hsiu Huemer, Martina Ješina, Pavel Janssen, Mirian C H Kölker, Stefan Kožich, Viktor Lavigne, Christian Lund, Allan Meldgaard Mochel, Fanny Morris, Andrew Pons, Mónica Ruiz Porras-Hurtado, Gloria Liliana Benoist, Jean-François Damaj, Léna Schiff, Manuel E-HOD Consortium (2022) Journal of inherited metabolic disease — Vol. 45, no.4, p. 848-861 (2022)
    • Article de périodique
    Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
    Gorce, Magali Lebigot, Elise Arion, Alina Brassier, Anaïs Cano, Aline De Lonlay, Pascale Feillet, François Gay, Claire Labarthe, François Nassogne, Marie-Cécile[UCL] Roche, Sandrine Roubertie, Agathe Sacaze, Elise Touati, Guy Broué, Pierre (2022) Journal of inherited metabolic disease — Vol. 45, no. 2, p. 215-222 (2022)