Kolexia
Piraud Monique
Pharmacien
Hôpital Femme Mère Enfant
Bron, France
54 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies lysosomiales Maladies musculaires Glycogénose Erreurs innées du métabolisme Maladies métaboliques Mucopolysaccharidoses Glycogénose de type II Maladie de Fabry Glycogénose de type VII

Industries

Sanofi
3 collaboration(s)
Dernière en 2019
Amicus Therapeutics
2 collaboration(s)
Dernière en 2019
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Dernières activités

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
Journal of inherited metabolic disease   09 juillet 2020
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.
Molecular genetics and metabolism reports   01 mai 2020
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.
Neurology   23 juillet 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Journal of inherited metabolic disease   08 avril 2019
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics.
International journal of molecular sciences   21 janvier 2019
METABOLIC MYOPATHIES I: P.273Delineating the phenotypic spectrum of PGK1-associated phosphoglycerate kinase deficiency: the French experience
Neuromuscular disorders : NMD   01 octobre 2018
Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.
Journal of translational medicine   04 septembre 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
Journal of inherited metabolic disease   19 mars 2018
Intracerebral gene therapy in children with metachromatic leukodystrophy: Results of a phase I/II trial
Lysosome (2018)   01 février 2018
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.
Clinica chimica acta; international journal of clinical chemistry   02 octobre 2017