Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation von Romano, Stéphane, MD, Valayannopoulos, Vassili, MD, Touati, Guy, MD, Jais, Jean-Pierre, MD, PhD, Rabier, Daniel, MD, de Keyzer, Yves, PhD, Bonnet, Damien, MD, PhD, de Lonlay, Pascale, MD, PhD

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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion von González-Barroso, M Mar, Giurgea, Irina, Bouillaud, Fredéric, Anedda, Andrea, Bellanné-Chantelot, Christine, Hubert, Laurence, de Keyzer, Yves, de Lonlay, Pascale, Ricquier, Daniel

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood von Michot, Caroline, Hubert, Laurence, Brivet, Michèle, De Meirleir, Linda, Valayannopoulos, Vassili, Müller-Felber, Wolfgang, Venkateswaran, Ramesh, Ogier, Hélène, Desguerre, Isabelle, Altuzarra, Cécilia, Thompson, Elizabeth, Smitka, Martin, Huebner, Angela, Husson, Marie, Horvath, Rita, Chinnery, Patrick, Vaz, Frederic M, Munnich, Arnold, Elpeleg, Orly, Delahodde, Agnès, de Keyzer, Yves, de Lonlay, Pascale

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Identification of a novel rat hepatic gene induced early by insulin, independently of glucose von Coffy, Sandrine, Decaux, Jean-François, Girard, Jean, de Keyzer, Yves, Asfari, Maryam

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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome von Valayannopoulos, Vassili, Bakouh, Naziha, Mazzuca, Michel, Nonnenmacher, Luc, Hubert, Laurence, Makaci, Fatna-Léa, Chabli, Allel, Salomons, Gajja S., Mellot-Draznieks, Caroline, Brulé, Emilie, de Lonlay, Pascale, Toulhoat, Hervé, Munnich, Arnold, Planelles, Gabrielle, de Keyzer, Yves

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What’s new in metabolic and genetic hypoglycaemias: diagnosis and management von Valayannopoulos, Vassili, Romano, Stéphane, Mention, Karine, Vassault, Anne, Rabier, Daniel, Polak, Michel, Robert, Jean-Jacques, Keyzer, Yves de, Lonlay, Pascale de

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Cloning and characterization of the human V3 pituitary vasopressin receptor von de Keyzer, Yves, Auzan, Colette, Lenne, Frédéric, Beldjord, Chérif, Thibonnier, Marc, Bertagna, Xavier, Clauser, Eric

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Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood von Zeharia, Avraham, Shaag, Avraham, Houtkooper, Riekelt H., Hindi, Tareq, de Lonlay, Pascale, Erez, Gilli, Hubert, Laurence, Saada, Ann, de Keyzer, Yves, Eshel, Gideon, Vaz, Frédéric M., Pines, Ophry, Elpeleg, Orly

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Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria von de Keyzer, Yves, Valayannopoulos, Vassili, Benoist, Jean-François, Batteux, Frédéric, Lacaille, Florence, Hubert, Laurence, Chrétien, Dominique, Chadefeaux-Vekemans, Bernadette, Niaudet, Patrick, Touati, Guy, Munnich, Arnold, de Lonlay, Pascale

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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia von Michot, Caroline, Hubert, Laurence, Romero, Norma B., Gouda, Amr, Mamoune, Asmaa, Mathew, Suja, Kirk, Edwin, Viollet, Louis, Rahman, Shamima, Bekri, Soumeya, Peters, Heidi, McGill, James, Glamuzina, Emma, Farrar, Michelle, von der Hagen, Maya, Alexander, Ian E., Kirmse, Brian, Barth, Magalie, Laforet, Pascal, Benlian, Pascale, Munnich, Arnold, JeanPierre, Marc, Elpeleg, Orly, Pines, Ophry, Delahodde, Agnès, de Keyzer, Yves, de Lonlay, Pascale

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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect von Valayannopoulos, Vassili, Boddaert, Nathalie, Chabli, Allel, Barbier, Valerie, Desguerre, Isabelle, Philippe, Anne, Afenjar, Alexandra, Mazzuca, Michel, Cheillan, David, Munnich, Arnold, de Keyzer, Yves, Jakobs, Cornelis, Salomons, Gajja S., de Lonlay, Pascale

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Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts von Michot, Caroline, Mamoune, Asmaa, Vamecq, Joseph, Viou, Mai Thao, Hsieh, Lu-Sheng, Testet, Eric, Lainé, Jeanne, Hubert, Laurence, Dessein, Anne-Frédérique, Fontaine, Monique, Ottolenghi, Chris, Fouillen, Laetitia, Nadra, Karim, Blanc, Etienne, Bastin, Jean, Candon, Sophie, Pende, Mario, Munnich, Arnold, Smahi, Asma, Djouadi, Fatima, Carman, George M., Romero, Norma, de Keyzer, Yves, de Lonlay, Pascale

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Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome von Brassier, Anaïs, Ottolenghi, Chris, Boutron, Audrey, Bertrand, Anne-Marie, Valmary-Degano, Séverine, Cervoni, Jean-Paul, Chrétien, Dominique, Arnoux, Jean-Baptiste, Hubert, Laurence, Rabier, Daniel, Lacaille, Florence, de Keyzer, Yves, Di Martino, Vincent, de Lonlay, Pascale

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High precursor level in maternal blood results from the alternate mode of proopiomelanocortin processing in human placenta von Raffin-Sanson, Marie-Laure, Massias, Jean Francis, Ankotche, Amos, Coste, Joël, De Keyzer, Yves, Oliver, Charles, Dumont, Chantal, Cabrol, Dominique, Ferré, Francoise, Bertagna, Xavier

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TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane von Hanein, Sylvain, Garcia, Mathilde, Fares-Taie, Lucas, Serre, Valérie, De Keyzer, Yves, Delaveau, Thierry, Perrault, Isabelle, Delphin, Nathalie, Gerber, Sylvie, Schmitt, Alain, Masse, Jean-Marc, Munnich, Arnold, Kaplan, Josseline, Devaux, Frédéric, Rozet, Jean-Michel

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Clinical and biochemical heterogeneity associated with fumarase deficiency von Ottolenghi, Chris, Hubert, Laurence, Allanore, Yannick, Brassier, Anais, Altuzarra, Cécilia, Mellot-Draznieks, Caroline, Bekri, Soumeya, Goldenberg, Alice, Veyrieres, Severine, Boddaert, Nathalie, Barbier, Valérie, Valayannopoulos, Vassili, Slama, Abdelhamid, Chrétien, Dominique, Ricquier, Daniel, Marret, Stéphane, Frebourg, Thierry, Rabier, Daniel, Munnich, Arnold, de Keyzer, Yves, Toulhoat, Hervé, de Lonlay, Pascale

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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy von Barth, Magalie, Ottolenghi, Chris, Hubert, Laurence, Chrétien, Dominique, Serre, Valérie, Gobin, Stéphanie, Romano, Stéphane, Vassault, Anne, Sefiani, Aziz, Ricquier, Daniel, Boddaert, Nathalie, Brivet, Michèle, de Keyzer, Yves, Munnich, Arnold, Duran, Marinus, Rabier, Daniel, Valayannopoulos, Vassili, de Lonlay, Pascale

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Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood von Zeharia, Avraham, Shaag, Avraham, Houtkooper, Riekelt H., Hindi, Tareq, de Lonlay, Pascale, Erez, Gilli, Hubert, Laurence, Saada, Ann, de Keyzer, Yves, Eshel, Gideon, Vaz, Frédéric M., Pines, Ophry, Elpeleg, Orly

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Syndromes of Ectopic ACTH Secretion: Recent Pathophysiological Progresses and Their Clinical Implications von Raffin-Sanson, Marie Laure, Keyzer, Yves de, Bertagna, Xavier

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Identification of Genes Associated with the Corticotroph Phenotype in Bronchial Carcinoid Tumors von Pascual-Le Tallec, Laurent, Dulmet, Elisabeth, Bertagna, Xavier, de Keyzer, Yves

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