Kolexia
Saban Christine
Pharmacien
Hôpital Femme Mère Enfant
Bron, France
83 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Erreurs innées du métabolisme lipidique Erreurs innées du métabolisme Maladies métaboliques Maladies mitochondriales Maladies musculaires Rhabdomyolyse Prédisposition génétique à une maladie Déficit multiple en acyl CoA déshydrogénase Aminoacidopathies congénitales

Industries

Ultragenyx
10 collaboration(s)
Dernière en 2021
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Dernières activités

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.
Journal of inherited metabolic disease   08 septembre 2023
Improving diagnosis of mitochondrial fatty-acid oxidation disorders.
European journal of human genetics : EJHG   05 janvier 2023
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.
Journal of inherited metabolic disease   23 mai 2022
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genetics in medicine : official journal of the American College of Medical Genetics   11 février 2022
Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.
Neuromuscular disorders : NMD   26 juin 2021
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
Molecular genetics and metabolism   10 février 2021
Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.
Pediatric nephrology (Berlin, Germany)   09 septembre 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
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.
Orphanet journal of rare diseases   26 février 2020
Collaboration between academics, small pharmaceutical company and patient organizations in the development of a new formulation of cysteamine in nephropathic cystinosis: A successful story.
Therapie   13 février 2020