Kolexia
Bruneel Arnaud Pharmacien
Bruneel Arnaud
Pharmacien
Hôpital Bichat-Claude-Bernard
Paris, France
66 Activités
7 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Troubles congénitaux de la glycosylation Fibrose Choc septique Choc Déficience intellectuelle Maladies du foie Diabète Obésité Sepsie

Collaborateurs

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Dupre Thierry
Dupre Thierry
Hôpital Bichat-Claude-Bernard, Paris, France
Seta Nathalie
Seta Nathalie
Hôpital Bichat-Claude-Bernard, Paris, France
Barrot Sandrine
Barrot Sandrine
Hôpital Bichat-Claude-Bernard, Paris, France
Borgel Delphine
Borgel Delphine
Hôpital Necker Enfants Malades, Paris, France

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Dernières activités

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Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Translational research : the journal of laboratory and clinical medicine   25 novembre 2023
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Clinica chimica acta; international journal of clinical chemistry   29 octobre 2023
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Proteomics. Clinical applications   24 octobre 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
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Journal of thrombosis and haemostasis : JTH   18 mai 2023
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Distinct regulation of iron homeostasis in rat heart and liver in response to systemic iron deficiency
Printemps de la cardiologie 2023   01 mai 2023
High CDT without clinical context: Beware of the variant.
Clinica chimica acta; international journal of clinical chemistry   06 avril 2023
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
European journal of neurology   04 avril 2023
Reversible atransferrinemia in a patient with chronic enteropathy: is transferrin mandatory for iron transport?
Biochemia medica   15 décembre 2022