Kolexia
Labarthe Francois Pédiatrie
Labarthe Francois
Pédiatrie
Hôpital Gatien de Clocheville
Tours, France
139 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Glycogénose de type II Maladies métaboliques Erreurs innées du métabolisme Phénylcétonuries Cardiomyopathies Défaillance cardiaque Hypoglycémie Mucopolysaccharidoses Hyperammoniémie

Collaborateurs

Voir plus
Tardieu Marine
Tardieu Marine
Hôpital Gatien de Clocheville, Tours, France
Brassier Anais
Brassier Anais
Hôpital Necker Enfants Malades, Paris, France
Pichard Samia
Pichard Samia
Hôpital Robert-Debré, Paris, France
Maillot Francois
Maillot Francois
Centre hospitalier de Tours, Tours, France

Industries

Voir plus
Alfasigma
8 collaboration(s)
Dernière en 2023
Sanofi
7 collaboration(s)
Dernière en 2022
Ultragenyx
1 collaboration(s)
Dernière en 2020
Nutricia
1 collaboration(s)
Dernière en 2021

Dernières activités

Voir plus
Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.
Orphanet journal of rare diseases   14 février 2024
Mini-COMET study: Safety and efficacy data after avalglucosidase alfa dosing for ≥ 145 weeks in participants with infantile-onset Pompe disease (IOPD) who had demonstrated clinical decline or sub-optimal response while receiving alglucosidase alfa
Molecular genetics and metabolism   01 février 2024
Using a novel measuring device to objectively evaluate the clinical benefit on ptosis in infantile-onset Pompe disease (IOPD): Results from 145 weeks' avalglucosidase alfa dosing in Mini-COMET participants previously treated with alglucosidase alfa
Molecular genetics and metabolism   01 février 2024
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.
Molecular genetics and metabolism   10 novembre 2023
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Clinica chimica acta; international journal of clinical chemistry   29 octobre 2023
Increased acylcarnitines in infant heart failure indicate fatty acid oxidation inhibition: towards therapeutic options?
ESC heart failure   23 août 2023
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
The Journal of clinical endocrinology and metabolism   21 août 2023
Remodeling of lipid landscape in high fat fed very-long chain acyl-CoA dehydrogenase null mice favors pro-arrhythmic polyunsaturated fatty acids and their downstream metabolites.
Biochimica et biophysica acta. Molecular basis of disease   07 août 2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Orphanet journal of rare diseases   21 juillet 2023
Mini-COMET: An Open-label Ascending Dose Cohort Study to Assess the Safety, Pharmacokinetics, and Preliminary Efficacy of Avalglucosidase Alfa (NeoGAA, GZ402666) in Patients With Infantile-onset Pompe Disease Treated With Alglucosidase Alfa Who Demonstrate Clinical Decline or Sub-optimal Clinical Response
Essai Clinique (Sanofi)   26 juin 2023