Kolexia
Damaj Lena Pédiatrie
Damaj Lena
Pédiatrie
Hôpital Sud Rennes
Rennes, France
54 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies métaboliques Erreurs innées du métabolisme Hyperammoniémie Encéphalopathies Homocystinurie Aminoacidopathies congénitales Déficit en ornithine carbamyl transférase Mucopolysaccharidoses Hypoglycémie

Collaborateurs

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Moreau Caroline
Moreau Caroline
Hôpital Pontchaillou, Rennes, France
Bendavid Claude
Bendavid Claude
Hôpital Pontchaillou, Rennes, France
Barth Magalie
Barth Magalie
Hôpital Larrey Angers, Angers, France
Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France

Industries

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Sanofi
9 collaboration(s)
Dernière en 2023
EXAFIELD
1 collaboration(s)
Dernière en 2022
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Dernières activités

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Molecular basis of hyperammonemia secondary to asparaginase: from therapeutic efficacity to toxicity.
Annales de biologie clinique   01 novembre 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
Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism.
Clinical chemistry and laboratory medicine   19 juin 2023
Clinical, genetic and therapeutic aspects in Menkes disease: study of a French cohort and systematic literature review
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 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
Gene Editing Corrects a G > A Transition from a GM1 Gangliosidosis Patient.
The CRISPR journal   11 janvier 2023
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Life (Basel, Switzerland)   27 octobre 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
Recanalization Treatments for Pediatric Acute Ischemic Stroke in France.
JAMA network open   01 septembre 2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
European journal of neurology   09 août 2022