Pascale de Lonlay
7PUBLICATIONS
29CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (7)
Sort by Publication Date:
|Apr 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano
|Aug 13, 2024
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases.Hortense de Calbiac, Apolline Imbard, Pascale de Lonlay
|Jul 21, 2023
Citrulline in the management of patients with urea cycle disorders.Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux
|May 12, 2021
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.Pascale de Lonlay, Roland Posset, Ulrike Mütze
|Sep 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann
Pageof 2
Frequent Collaborators
1 joint publications
Sander Pajusalu
1 joint publications
Mercedes Serrano
1 joint publications
Peter Witters
1 joint publications
Anna Cechova
1 joint publications
Tomáš Honzik
1 joint publications
Andrew C Edmondson
1 joint publications
Can Ficicioglu
1 joint publications
Rita Barone
1 joint publications
Claire-Marine Bérat
1 joint publications
Sandrine Vuillaumier-Barrot