Kolexia
Guffon Nathalie Pédiatrie
Guffon Nathalie
Pédiatrie
Hôpital Femme Mère Enfant
Bron, France
180 Activités
2 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Mucopolysaccharidoses Alpha-Mannosidose Mannosidoses Mucopolysaccharidose de type II Mucopolysaccharidose de type I Mucopolysaccharidose de type VI Maladie de Niemann-Pick de type A Mucopolysaccharidose de type IV Maladies de Niemann-Pick

Collaborateurs

Voir plus
Fouilhoux Alain
Fouilhoux Alain
Hôpital Edouard Herriot, Lyon, France
Germain Dominique
Germain Dominique
Hôpital Raymond-Poincaré, Garches, France
Brassier Anais
Brassier Anais
Hôpital Necker Enfants Malades, Paris, France
Pichard Samia
Pichard Samia
Hôpital Robert-Debré, Paris, France

Industries

Voir plus
Sanofi
58 collaboration(s)
Dernière en 2023
Ultragenyx
35 collaboration(s)
Dernière en 2023
Chiesi
3 collaboration(s)
Dernière en 2023
Nutricia
1 collaboration(s)
Dernière en 2021

Dernières activités

Voir plus
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
Essai Clinique (JCR Pharmaceuticals Co., Ltd.)   03 mars 2024
Extension Study of Idursulfase-IT Along With Elaprase in Children and Adults With Hunter Syndrome and Cognitive Impairment: An Open-Label Extension for Subjects in Studies HGT-HIT-046 and SHP609-302 Evaluating Long-Term Safety of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase® in Subjects With Hunter Syndrome and Cognitive Impairment
Essai Clinique (Takeda Pharmaceutical)   19 février 2024
Alpha-mannosidosis international caregiver and patient survey: Changes in mobility, pain or discomfort, and patients' self-care over time
Molecular genetics and metabolism   01 février 2024
A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
Molecular genetics and metabolism   01 février 2024
Long-term efficacy of velmanase alfa treatment in patients with alpha-mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)
Molecular genetics and metabolism   01 février 2024
Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials
Molecular genetics and metabolism   01 février 2024
P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094: An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction With Elaprase® in Patients With Hunter Syndrome and Cognitive Impairment
Essai Clinique (Shire)   19 décembre 2023
Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.
Cardiology in the young   18 octobre 2023
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.
Journal of inherited metabolic disease   08 septembre 2023