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Daniel Rabier

Showing results (21-30 of 34) with videos related to

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Molecular Genetics and Metabolism|July 6, 2004
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disordersAntonella Peduto, Matthias R Baumgartner, Nanda M Verhoeven, et al.
The New England Journal of Medicine|June 29, 2007
Allogeneic bone marrow transplantation in mevalonic aciduriaBénédicte Neven, Vassili Valayannopoulos, Pierre Quartier, et al.
Pediatric Research|August 23, 2011
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein dietVassili Valayannopoulos, Fanny Bajolle, Jean-Baptiste Arnoux, et al.
Brain & Development|April 7, 2007
Early neurological phenotype in 4 children with biallelic PRODH mutationsAlexandra Afenjar, Marie-Laure Moutard, Diane Doummar, et al.
Orphanet Journal of Rare Diseases|September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic aciduriasMathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
Molecular Genetics and Metabolism|March 13, 2013
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndromeAnaïs Brassier, Chris Ottolenghi, Audrey Boutron, et al.
Mitochondrion|March 4, 2010
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduriaVassili Valayannopoulos, Coralie Haudry, Valérie Serre, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|June 16, 2004
An analysis of the association between serum citrulline and acute rejection among 26 recipients of intestinal transplantPeter A Pappas, Andreas G Tzakis, Jeffrey J Gaynor, et al.
Biochimica Et Biophysica Acta|July 6, 2010
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiencyUdo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, et al.
Journal of Inherited Metabolic Disease|October 28, 2010
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathyMagalie Barth, Chris Ottolenghi, Laurence Hubert, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|July 6, 2004
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disordersAntonella Peduto, Matthias R Baumgartner, Nanda M Verhoeven, et al.
The New England Journal of Medicine|June 29, 2007
Allogeneic bone marrow transplantation in mevalonic aciduriaBénédicte Neven, Vassili Valayannopoulos, Pierre Quartier, et al.
Pediatric Research|August 23, 2011
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein dietVassili Valayannopoulos, Fanny Bajolle, Jean-Baptiste Arnoux, et al.
Brain & Development|April 7, 2007
Early neurological phenotype in 4 children with biallelic PRODH mutationsAlexandra Afenjar, Marie-Laure Moutard, Diane Doummar, et al.
Orphanet Journal of Rare Diseases|September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic aciduriasMathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
Molecular Genetics and Metabolism|March 13, 2013
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndromeAnaïs Brassier, Chris Ottolenghi, Audrey Boutron, et al.
Mitochondrion|March 4, 2010
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduriaVassili Valayannopoulos, Coralie Haudry, Valérie Serre, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|June 16, 2004
An analysis of the association between serum citrulline and acute rejection among 26 recipients of intestinal transplantPeter A Pappas, Andreas G Tzakis, Jeffrey J Gaynor, et al.
Biochimica Et Biophysica Acta|July 6, 2010
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiencyUdo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, et al.
Journal of Inherited Metabolic Disease|October 28, 2010
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathyMagalie Barth, Chris Ottolenghi, Laurence Hubert, et al.
Pageof 4