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V Valayannopoulos

Showing results (11-20 of 35) with videos related to

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|April 5, 2014
[Hurler syndrome: early diagnosis and treatment]S Leroux, J-B Muller, E Boutaric, et al.
Journal of Medical Genetics|May 6, 2014
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlationsM Bricout, D Grévent, A S Lebre, et al.
Journal of Medical Genetics|July 17, 2008
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigationV Laugel, C Dalloz, E S Tobias, et al.
Revue Neurologique|April 29, 2014
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]M Devaux-Bricout, D Grévent, A-S Lebre, et al.
Molecular Genetics and Metabolism|October 20, 2007
Development of liver disease despite mannose treatment in two patients with CDG-IbK Mention, F Lacaille, V Valayannopoulos, et al.
Molecular Genetics and Metabolism|May 2, 2017
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)P Harmatz, C J Hendriksz, C Lampe, et al.
Journal of Inherited Metabolic Disease|June 10, 2006
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixtureG Touati, V Valayannopoulos, K Mention, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|February 17, 2015
Early and late complications after liver transplantation for propionic acidemia in children: a two centers studyF Charbit-Henrion, F Lacaille, P McKiernan, et al.
Orphanet Journal of Rare Diseases|June 26, 2016
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityS Sabry, S Vuillaumier-Barrot, E Mintet, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 28, 2015
Two new cases of serine deficiency disorders treated with l-serineA Brassier, V Valayannopoulos, N Bahi-Buisson, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|April 5, 2014
[Hurler syndrome: early diagnosis and treatment]S Leroux, J-B Muller, E Boutaric, et al.
Journal of Medical Genetics|May 6, 2014
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlationsM Bricout, D Grévent, A S Lebre, et al.
Journal of Medical Genetics|July 17, 2008
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigationV Laugel, C Dalloz, E S Tobias, et al.
Revue Neurologique|April 29, 2014
[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]M Devaux-Bricout, D Grévent, A-S Lebre, et al.
Molecular Genetics and Metabolism|October 20, 2007
Development of liver disease despite mannose treatment in two patients with CDG-IbK Mention, F Lacaille, V Valayannopoulos, et al.
Molecular Genetics and Metabolism|May 2, 2017
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)P Harmatz, C J Hendriksz, C Lampe, et al.
Journal of Inherited Metabolic Disease|June 10, 2006
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixtureG Touati, V Valayannopoulos, K Mention, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|February 17, 2015
Early and late complications after liver transplantation for propionic acidemia in children: a two centers studyF Charbit-Henrion, F Lacaille, P McKiernan, et al.
Orphanet Journal of Rare Diseases|June 26, 2016
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityS Sabry, S Vuillaumier-Barrot, E Mintet, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 28, 2015
Two new cases of serine deficiency disorders treated with l-serineA Brassier, V Valayannopoulos, N Bahi-Buisson, et al.
Pageof 4