Kolexia
Brassier Anais Pédiatrie
Brassier Anais
Pédiatrie
Hôpital Necker Enfants Malades
Paris, France
193 Activités
177 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies rares Urgences Maladie de Gaucher Maladies métaboliques Glycogénose de type II Maladies lysosomiales Mucopolysaccharidoses Erreurs innées du métabolisme Maladie de Wolman

Collaborateurs

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Arnoux Jean-Baptiste
Arnoux Jean-Baptiste
Hôpital Necker Enfants Malades, Paris, France
Schiff Manuel
Schiff Manuel
Hôpital Necker Enfants Malades, Paris, France
Chabrol Brigitte
Chabrol Brigitte
Hôpital La Timone Enfants, Marseille, France
Ottolenghi Chris
Ottolenghi Chris
Hôpital Necker Enfants Malades, Paris, France

Industries

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Sanofi
27 collaboration(s)
Dernière en 2023
IMMEDICA Pharma
6 collaboration(s)
Dernière en 2023
ORCHARD THERAPEUTICS
5 collaboration(s)
Dernière en 2021
B3TSI
2 collaboration(s)
Dernière en 2023

Dernières activités

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LEAP2MONO: A Phase 3, Multicenter, Multinational, Randomized, Double-blind, Double-dummy, Active-comparator Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ERT)
Essai Clinique (Sanofi)   01 mars 2024
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society   26 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
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
In vivo corneal confocal microscopy revealing Gaucher disease in a child.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie   19 janvier 2024
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Molecular genetics and metabolism   01 janvier 2024
MPS (RaDiCo Cohort) (RaDiCo-MPS): Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   12 septembre 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Molecular genetics and metabolism   31 juillet 2023
Citrulline in the management of patients with urea cycle disorders.
Orphanet journal of rare diseases   21 juillet 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