Kolexia
Bekri Soumeya
Pharmacien
Hôpital Charles Nicolle
Rouen, France
191 Activités
426 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies rares Urgences Maladie de Fabry Maladies lysosomiales Erreurs innées du métabolisme Maladies métaboliques Mucopolysaccharidoses Maladies du foie Anasarque foetoplacentaire

Industries

Takeda Pharmaceutical
19 collaboration(s)
Dernière en 2023
Amicus Therapeutics
19 collaboration(s)
Dernière en 2023
Sanofi
8 collaboration(s)
Dernière en 2023
ORCHARD THERAPEUTICS
3 collaboration(s)
Dernière en 2023

Dernières activités

Treatment-related benefit and satisfaction in patients with Fabry disease: Insight into patients' expectations and preferences from the SATIS-Fab study
Molecular genetics and metabolism   01 février 2024
Expression of placental CD146 is dysregulated by prenatal alcohol exposure and contributes in cortical vasculature development and positioning of vessel-associated oligodendrocytes.
Frontiers in cellular neuroscience   10 janvier 2024
Neuromuscular disorders in the omics era.
Clinica chimica acta; international journal of clinical chemistry   09 décembre 2023
Implementation of a "hypoglycemia kit" in a pediatric emergency room: A retrospective study during 2011-2019.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   20 novembre 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
Genome-wide expression analysis in Fabry disease human podocyte cell line
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Evaluation of dried-blood spots and a hematocrit-independent procedure in lysosomal diseases screening using multiplexed tandem mass spectrometry assays.
Clinica chimica acta; international journal of clinical chemistry   04 mars 2023
Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease.
Translational research : the journal of laboratory and clinical medicine   28 février 2023
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
International journal of molecular sciences   29 décembre 2022
Diagnostiquer un Déficit en Lipase Acide Lysosomale ou LAL-D
Youtube @ RARE à l'écoute   13 octobre 2022