Kolexia
Vargas-Poussou Rosa
Pédiatrie
Hôpital Européen Georges Pompidou
Paris, France
133 Activités
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{{person.topmesh1.name}} Syndrome de Gitelman Syndrome de Bartter Hypokaliémie Néphrocalcinose Acidose Acidose tubulaire rénale Maladies du rein Hypercalcémie Hypercalciurie

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2 collaboration(s)
Dernière en 2020
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Dernières activités

Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO test be normal?
Nefrologia   27 septembre 2023
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Archives of medical research   27 juillet 2023
#2568 LONG-READ SEQUENCING IDENTIFIES NOVEL PATHOGENIC INTRONIC VARIANTS IN GITELMAN SYNDROME
60th ERA Congress, 15-18 June 2023: Congress Abstracts   14 juin 2023
Hyperoxalurie
HAS Publications   23 mars 2023
Major advances in pediatric nephro-genetics.
Medecine sciences : M/S   21 mars 2023
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association   03 mars 2023
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Scientific reports   03 janvier 2023
Syndrome de Gitelman
HAS Publications   12 décembre 2022
Genetic basis of nephrogenic diabetes insipidus.
Molecular and cellular endocrinology   30 novembre 2022
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association   24 novembre 2022