Kolexia
Acquaviva-Bourdain Cecile
Pharmacien
Hôpital Femme Mère Enfant
Bron, France
160 Activités
36 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Hyperoxalurie Hyperoxalurie primaire Maladies musculaires Cystinose Déficit multiple en acyl CoA déshydrogénase Maladies mitochondriales Erreurs innées du métabolisme Aminoacidopathies congénitales Néphrocalcinose

Industries

Ultragenyx
11 collaboration(s)
Dernière en 2023
Novo Nordisk
2 collaboration(s)
Dernière en 2023
Bouchara-Recordati
1 collaboration(s)
Dernière en 2022
Roche
1 collaboration(s)
Dernière en 2023

Dernières activités

"Recurrent familial case of early childhood sudden death: complex post mortem genetic investigations"
Forensic science international. Genetics   02 mars 2024
Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.
Pediatric nephrology (Berlin, Germany)   23 janvier 2024
Characterization of blood and urinary levels of markers of elastin metabolism in 7q11.23 imbalances (Williams and 7q11.23 microduplication syndromes)
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Circulating Oxalate levels in Short Bowel Syndrome as a Severity Marker of Chronic Kidney Disease
Kidney international reports   28 décembre 2023
High plasma oxalate in short bowel syndrome: never forget the risk of oxalate nephropathy (Oxago study)
Clinical nutrition ESPEN   01 décembre 2023
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
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.
Journal of inherited metabolic disease   08 septembre 2023
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Kidney international reports   04 août 2023
Oxalate: from physiology to pathology.
Nephrologie & therapeutique   20 juin 2023