Kolexia
Tardieu Marine
Pédiatrie
Hôpital Gatien de Clocheville
Tours, France
81 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Urgences Maladies rares Erreurs innées du métabolisme Maladies métaboliques Mucopolysaccharidoses Glycogénose de type II Hypoglycémie Hyperammoniémie Encéphalopathies

Industries

Sanofi
2 collaboration(s)
Dernière en 2021
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Dernières activités

Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Clinica chimica acta; international journal of clinical chemistry   29 octobre 2023
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
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
European journal of neurology   10 juin 2023
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France.
Orphanet journal of rare diseases   08 juin 2023
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
International journal of neonatal screening   01 février 2023
Glycogénose de type I
HAS Publications   13 décembre 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Bone marrow transplantation   09 décembre 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
The Journal of pediatrics   17 octobre 2022
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Journal of inherited metabolic disease   09 mai 2022
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: A multicentre observational follow-up study of the European Pompe Consortium
Molecular genetics and metabolism   01 février 2022