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Daniel Rabier

Showing results (11-20 of 34) with videos related to

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The Journal of Pediatrics|October 13, 2009
Cardiomyopathies in propionic aciduria are reversible after liver transplantationStéphane Romano, Vassili Valayannopoulos, Guy Touati, et al.
European Journal of Pediatrics|November 2, 2004
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineMatthias R Baumgartner, Daniel Rabier, Marie-Cécile Nassogne, et al.
The Journal of Clinical Endocrinology and Metabolism|March 24, 2005
Respiratory chain defects may present only with hypoglycemiaFanny Mochel, Abdelhamid Slama, Guy Touati, et al.
Journal of Hepatology|January 22, 2008
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiencyFrançois Feillet, Marc Merten, Shyue-Fang Battaglia-Hsu, et al.
European Journal of Pediatrics|October 4, 2007
What's new in metabolic and genetic hypoglycaemias: diagnosis and managementVassili Valayannopoulos, Stéphane Romano, Karine Mention, et al.
Journal of the Neurological Sciences|August 22, 2012
Portosystemic shunts: an underdiagnosed but treatable cause of neurological and psychiatric disordersBertrand Degos, Laure Daelman, Gilles Huberfeld, et al.
Human Molecular Genetics|October 1, 2005
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditionsJean-Jacques Brière, Judith Favier, Paule Bénit, et al.
European Journal of Human Genetics : EJHG|June 1, 2010
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's diseaseFanny Mochel, Sandrine Duteil, Cécilia Marelli, et al.
Journal of Child Neurology|August 25, 2009
Management of West syndrome in a patient with methylmalonic aciduriaPhilippe M Campeau, Vassili Valayannopoulos, Guy Touati, et al.
Plos One|July 27, 2007
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progressionFanny Mochel, Perrine Charles, François Seguin, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
The Journal of Pediatrics|October 13, 2009
Cardiomyopathies in propionic aciduria are reversible after liver transplantationStéphane Romano, Vassili Valayannopoulos, Guy Touati, et al.
European Journal of Pediatrics|November 2, 2004
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineMatthias R Baumgartner, Daniel Rabier, Marie-Cécile Nassogne, et al.
The Journal of Clinical Endocrinology and Metabolism|March 24, 2005
Respiratory chain defects may present only with hypoglycemiaFanny Mochel, Abdelhamid Slama, Guy Touati, et al.
Journal of Hepatology|January 22, 2008
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiencyFrançois Feillet, Marc Merten, Shyue-Fang Battaglia-Hsu, et al.
European Journal of Pediatrics|October 4, 2007
What's new in metabolic and genetic hypoglycaemias: diagnosis and managementVassili Valayannopoulos, Stéphane Romano, Karine Mention, et al.
Journal of the Neurological Sciences|August 22, 2012
Portosystemic shunts: an underdiagnosed but treatable cause of neurological and psychiatric disordersBertrand Degos, Laure Daelman, Gilles Huberfeld, et al.
Human Molecular Genetics|October 1, 2005
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditionsJean-Jacques Brière, Judith Favier, Paule Bénit, et al.
European Journal of Human Genetics : EJHG|June 1, 2010
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's diseaseFanny Mochel, Sandrine Duteil, Cécilia Marelli, et al.
Journal of Child Neurology|August 25, 2009
Management of West syndrome in a patient with methylmalonic aciduriaPhilippe M Campeau, Vassili Valayannopoulos, Guy Touati, et al.
Plos One|July 27, 2007
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progressionFanny Mochel, Perrine Charles, François Seguin, et al.
Pageof 4