Publications by authors named "Yves de Keyzer"

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Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.
Caroline Michot, Asmaa Mamoune, Joseph Vamecq, Mai Thao Viou, Lu-Sheng Hsieh, Yves de Keyzer

Biochim Biophys Acta· December 2013

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TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Sylvain Hanein, Mathilde Garcia, Lucas Fares-Taie, Valérie Serre, Yves De Keyzer

Biochim Biophys Acta· June 2013

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Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Anaïs Brassier, Chris Ottolenghi, Audrey Boutron, Anne-Marie Bertrand, Séverine Valmary-Degano, Yves de Keyzer

Mol Genet Metab· May 2013

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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Vassili Valayannopoulos, Naziha Bakouh, Michel Mazzuca, Luc Nonnenmacher, Laurence Hubert, Yves de Keyzer

J Inherit Metab Dis· January 2013

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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Caroline Michot, Laurence Hubert, Norma B Romero, Amr Gouda, Asmaa Mamoune, Yves de Keyzer

J Inherit Metab Dis· November 2012

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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Vassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, Valerie Barbier, Isabelle Desguerre, Yves de Keyzer

J Inherit Metab Dis· January 2012

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Clinical and biochemical heterogeneity associated with fumarase deficiency.
Chris Ottolenghi, Laurence Hubert, Yannick Allanore, Anais Brassier, Cécilia Altuzarra, Yves de Keyzer

Hum Mutat· September 2011

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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Magalie Barth, Chris Ottolenghi, Laurence Hubert, Dominique Chrétien, Valérie Serre, Yves de Keyzer

J Inherit Metab Dis· December 2010

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meirleir, Vassili Valayannopoulos, Yves de Keyzer

Hum Mutat· July 2010

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Cardiomyopathies in propionic aciduria are reversible after liver transplantation.
Stéphane Romano, Vassili Valayannopoulos, Guy Touati, Jean-Pierre Jais, Daniel Rabier, Yves de Keyzer

J Pediatr· January 2010

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Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
Yves de Keyzer, Vassili Valayannopoulos, Jean-François Benoist, Frédéric Batteux, Florence Lacaille

Pediatr Res· July 2009

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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.
M Mar González-Barroso, Irina Giurgea, Fredéric Bouillaud, Andrea Anedda, Christine Bellanné-Chantelot, Yves de Keyzer

PLoS One· January 2009

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Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
Avraham Zeharia, Avraham Shaag, Riekelt H Houtkooper, Tareq Hindi, Pascale de Lonlay, Yves de Keyzer

Am J Hum Genet· October 2008

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What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Vassili Valayannopoulos, Stéphane Romano, Karine Mention, Anne Vassault, Daniel Rabier, Yves de Keyzer

Eur J Pediatr· March 2008

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

Biochem J· January 2005

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The vasopressin receptor of corticotroph pituitary cells.
Patricia René, Yves de Keyzer

Prog Brain Res· December 2002

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Identification of genes associated with the corticotroph phenotype in bronchial carcinoid tumors.
Laurent Pascual-Le Tallec, Elisabeth Dulmet, Xavier Bertagna, Yves de Keyzer

J Clin Endocrinol Metab· November 2002

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