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European Journal of Medical Research
|
July 24, 2023
French recommendations for the management of glycogen storage disease type III
Camille Wicker, Aline Cano, Valérie Decostre, et al.
Neuromuscular Disorders : NMD
|
November 7, 2016
A new mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with early-onset neuromuscular phenotype and ragged-red fibers
Godelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Electrophoresis
|
June 6, 2018
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
Arnaud Bruneel, Sophie Cholet, Valérie Drouin-Garraud, et al.
Brain : a Journal of Neurology
|
December 23, 2011
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2016
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Journal of Inherited Metabolic Disease
|
October 23, 2021
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up
Magali Gorce, Elise Lebigot, Alina Arion, et al.
Orphanet Journal of Rare Diseases
|
August 5, 2024
Acid sphingomyelinase deficiency in France: a retrospective survival study
Wladimir Mauhin, Nathalie Guffon, Marie T Vanier, et al.
European Journal of Medical Genetics
|
August 5, 2021
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
Clothilde Estève, Céline Roman, Cécile DeLeusse, et al.
Journal of Inherited Metabolic Disease
|
September 20, 2017
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 54) with videos related to
Sort By:
Page
of 6
European Journal of Medical Research
|
July 24, 2023
French recommendations for the management of glycogen storage disease type III
Camille Wicker, Aline Cano, Valérie Decostre, et al.
Neuromuscular Disorders : NMD
|
November 7, 2016
A new mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with early-onset neuromuscular phenotype and ragged-red fibers
Godelieve Morel, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Electrophoresis
|
June 6, 2018
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
Arnaud Bruneel, Sophie Cholet, Valérie Drouin-Garraud, et al.
Brain : a Journal of Neurology
|
December 23, 2011
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2016
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Journal of Inherited Metabolic Disease
|
October 23, 2021
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up
Magali Gorce, Elise Lebigot, Alina Arion, et al.
Orphanet Journal of Rare Diseases
|
August 5, 2024
Acid sphingomyelinase deficiency in France: a retrospective survival study
Wladimir Mauhin, Nathalie Guffon, Marie T Vanier, et al.
European Journal of Medical Genetics
|
August 5, 2021
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
Clothilde Estève, Céline Roman, Cécile DeLeusse, et al.
Journal of Inherited Metabolic Disease
|
September 20, 2017
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, et al.
Page
of 6