Marine Tardieu

The abnormal accumulation of heparan sulfate in patients with mucopolysaccharidosis prevents the elastolytic activity of cathepsin V.

Authors:

Thibault Chazeirat Sophie Denamur Krzysztof K Bojarski Pierre-Marie Andrault Damien Sizaret Fuming Zhang Ahlame Saidi Marine Tardieu Robert J Linhardt François Labarthe Dieter Brömme Sergey A Samsonov Gilles Lalmanach Fabien Lecaille

Carbohydr Polym 2021 Feb 20;253:117261. Epub 2020 Oct 20.

Université de Tours, Tours, France; INSERM, UMR 1100, Centre d'Etude des Pathologies Respiratoires (CEPR), Team "Mécanismes Protéolytiques Dans l'Inflammation", Tours, France. Electronic address:

View Article and Find Full Text PDF

February 2021

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

J Pediatr 2020 05 4;220:184-192.e6. Epub 2020 Mar 4.

Department of Epidemiology and Health Economics, AP-HM/EA 3279 CEReSS (Centre d'Etude et de Recherche sur les Services de Santé et la Qualité de vie), Aix-Marseille Univ, Marseille, France.

View Article and Find Full Text PDF

May 2020

Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.

J Inherit Metab Dis 2020 03 11;43(2):234-243. Epub 2020 Feb 11.

Reference Center of Inherited Metabolic Diseases, Hôpital Universitaire Necker-Enfants Malades, APHP, Imagine Institute, Filière G2M, MetabERN, INEM, University Paris Descartes, Paris, France.

View Article and Find Full Text PDF

March 2020

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Authors:

Dominique P Germain Alain Fouilhoux Stéphane Decramer Marine Tardieu Pascal Pillet Marc Fila Serge Rivera Georges Deschênes Didier Lacombe

Clin Genet 2019 08 6;96(2):107-117. Epub 2019 Jun 6.

Department of Medical Genetics, CHU Bordeaux INSERM U1211, Université de Bordeaux, Bordeaux, France.

View Article and Find Full Text PDF

August 2019

Long-term liver disease in methylmalonic and propionic acidemias.

Authors:

Apolline Imbard Nuria Garcia Segarra Marine Tardieu Pierre Broué Juliette Bouchereau Samia Pichard Hélène Ogier de Baulny Abdelhamid Slama Charlotte Mussini Guy Touati Marie Danjoux Pauline Gaignard Hannes Vogel François Labarthe Manuel Schiff Jean-François Benoist

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

View Article and Find Full Text PDF

April 2018

Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.

Authors:

Bruno Lefort Elodie Gouache Cécile Acquaviva Marine Tardieu Jean François Benoist Jean-François Dumas Stéphane Servais Stéphan Chevalier Christine Vianey-Saban François Labarthe

Biochim Biophys Acta Mol Basis Dis 2017 06 6;1863(6):1292-1299. Epub 2017 Apr 6.

CHU de Tours, Médecine Pédiatrique, Tours, France, and Inserm U1069, Université François Rabelais de Tours, PRES Centre-Val de Loire Universités, Tours, France.

View Article and Find Full Text PDF

June 2017