Kolexia
Lebigot Elise
Pharmacien
Hôpital Bicêtre
Le Kremlin-Bicêtre, France
34 Activités
183 Followers

Scientifique
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{{person.topmesh1.name}} Maladies mitochondriales Acidose lactique Acidose Défaillance hépatique Hypoglycémie Déficit en fructose-1,6-diphosphatase Maladies métaboliques Encéphalopathies Hypertension artérielle

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Dernières activités

Elevated MCHC reveals a Southeast Asian Ovalocytosis.
American journal of hematology   15 novembre 2023
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
Nature communications   28 septembre 2023
MITODIAG: A French network of diagnostic laboratories for mitochondrial diseases
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Brain : a journal of neurology   03 mars 2023
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Mitochondrion   09 décembre 2022
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
Nature communications   16 novembre 2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
European journal of neurology   09 août 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
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in .
Journal of pediatric endocrinology & metabolism : JPEM   18 février 2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Neurology. Genetics   19 janvier 2022