Kolexia
Davit-Spraul Anne Pharmacien
Davit-Spraul Anne
Pharmacien
Hôpital Bicêtre
Le Kremlin-Bicêtre, France
52 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Cholestase Cholestase intrahépatique Maladies du foie Tyrosinémies Carcinome hépatocellulaire Prédisposition génétique à une maladie Carcinomes Glycogénose Syndrome d'Alagille

Collaborateurs

Voir plus
Jacquemin Emmanuel
Jacquemin Emmanuel
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Gonzales Emmanuel
Gonzales Emmanuel
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Habes Dalila
Habes Dalila
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Almes Marion
Almes Marion
Hôpital Bicêtre, Le Kremlin-Bicêtre, France

Industries

Voir plus
{{person.topindus1.name}}
{{person.topindus1.tot}} collaboration(s)
Dernière en {{person.topindus1.last}}
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.
Journal of pediatric gastroenterology and nutrition   01 mars 2024
∆ -3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Orphanet journal of rare diseases   07 décembre 2023
and Mutations in a Child Presenting With Incomplete Alagille Syndrome.
JPGN reports   17 juillet 2023
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
JHEP reports : innovation in hepatology   13 juillet 2023
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
JHEP reports : innovation in hepatology   16 novembre 2022
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Molecular genetics and metabolism reports   08 novembre 2022
Tyrosinémie type 1 (HT-1)
HAS Publications   10 octobre 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Diagnostics (Basel, Switzerland)   07 mai 2022
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Clinical chemistry   13 avril 2022
Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.
Hepatology (Baltimore, Md.)   26 octobre 2021