Kolexia
Froissart Roseline
Pharmacien
Hôpital Femme Mère Enfant
Bron, France
99 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Mucopolysaccharidoses Glycogénose Maladie de Gaucher Maladies de Niemann-Pick Maladies lysosomiales Maladie de Fabry Maladies musculaires Mucopolysaccharidose de type I Maladie de Niemann-Pick de type A

Industries

ORCHARD THERAPEUTICS
7 collaboration(s)
Dernière en 2021
Sanofi
6 collaboration(s)
Dernière en 2023
Takeda Pharmaceutical
6 collaboration(s)
Dernière en 2022
Amicus Therapeutics
3 collaboration(s)
Dernière en 2023

Dernières activités

A Caribbean case of phosphoglycerate mutase deficiency: Relevance of forearm exercise test and electroneuromyography with long exercise test in the diagnosis strategy of rare muscle glycogenosis
Medical Reports   01 février 2024
A syndrome can hide another: a case of Tay-Sachs disease associated with Prader-Willi syndrome secondary to maternal uniparental disomy of chromosome 15
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Journal of inherited metabolic disease   27 novembre 2023
French recommendations for the management of glycogen storage disease type III.
European journal of medical research   24 juillet 2023
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.
Journal of inherited metabolic disease   11 juillet 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
European journal of neurology   10 juin 2023
Une lombalgie métabolique
86e CONGRÈS FRANÇAIS DE MÉDECINE INTERNE   01 juin 2023
LC-MS/MS quantification of three C16 sulfatide species in dried blood spots for the diagnosis and treatment monitoring of metachromatic leukodystrophy
Molecular genetics and metabolism   01 février 2023
Acid sphingomyelinase deficiency: Epidemiologic and genetic aspects of a French cohort 1974–2021
Molecular genetics and metabolism   01 février 2023