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P de Lonlay

Showing results (101-110 of 131) with videos related to

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Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Nature Genetics|August 31, 2001
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failureP de Lonlay, I Valnot, A Barrientos, et al.
Journal of Inherited Metabolic Disease|December 20, 2012
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixtureA Servais, J B Arnoux, C Lamy, et al.
Molecular Genetics and Metabolism|April 21, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patientsM A Cosson, J F Benoist, G Touati, et al.
JIMD Reports|May 17, 2017
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyF Habarou, N Bahi-Buisson, E Lebigot, et al.
Molecular Genetics and Metabolism|October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiencyN Boddaert, S Romano, B Funalot, et al.
Journal of Medical Genetics|April 10, 2009
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)S Romano, F Bajolle, V Valayannopoulos, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 19, 2020
Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysisL Abily-Donval, L Dupic, C Joffre, et al.
The Journal of Clinical Investigation|August 15, 1997
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomyP de Lonlay, J C Fournet, J Rahier, et al.
Molecular Genetics and Metabolism|August 15, 2017
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patientsE Lebigot, P Gaignard, I Dorboz, et al.
Pageof 14

Showing results (101-110 of 131) with videos related to

Sort By:
Pageof 14
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Nature Genetics|August 31, 2001
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failureP de Lonlay, I Valnot, A Barrientos, et al.
Journal of Inherited Metabolic Disease|December 20, 2012
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixtureA Servais, J B Arnoux, C Lamy, et al.
Molecular Genetics and Metabolism|April 21, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patientsM A Cosson, J F Benoist, G Touati, et al.
JIMD Reports|May 17, 2017
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyF Habarou, N Bahi-Buisson, E Lebigot, et al.
Molecular Genetics and Metabolism|October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiencyN Boddaert, S Romano, B Funalot, et al.
Journal of Medical Genetics|April 10, 2009
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)S Romano, F Bajolle, V Valayannopoulos, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 19, 2020
Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysisL Abily-Donval, L Dupic, C Joffre, et al.
The Journal of Clinical Investigation|August 15, 1997
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomyP de Lonlay, J C Fournet, J Rahier, et al.
Molecular Genetics and Metabolism|August 15, 2017
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patientsE Lebigot, P Gaignard, I Dorboz, et al.
Pageof 14