Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

by Elodie Lebredonchel, Sandrine Duvet, Claire Douillard, François Foulquier, André Klein
Published 2021-11-01

Plasma Methionine and Clinical Severity in Nitrous Oxide Consumption

by Emeline Gernez, Sylvie Deheul, Céline Tard, Marie Joncquel, Claire Douillard, Guillaume Grzych
Published 2022-12-01

Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia

by Ariane Perry, Claire Douillard, Frederic Jonca, Francois Glowacki, Xavier Leroy, Paul Caveriviere, Aurélie Hubert, Philippe Labrune
Published 2020-03-01

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

by Wladimir Mauhin, Raphaël Borie, Florence Dalbies, Claire Douillard, Nathalie Guffon, Christian Lavigne, Olivier Lidove, Anaïs Brassier
Published 2022-02-01

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

by Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, Elodie Lebredonchel, Aurore Devos, Jamal Ghoumid, Karine Mention, Dries Dobbelaere, Marie Joncquel Chevalier-Curt, Monique Fontaine, Sabine Defoort, Vassily Smirnov, Claire Douillard, Claire-Marie Dhaenens
Published 2022-06-01

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa...

by Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao, Claire Douillard, Chris Ottolenghi, Clément Pontoizeau, Federica Miotto, Jeannie Le Mouhaër
Published 2021-05-01

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease

by Wladimir Mauhin, Abdellah Tebani, Damien Amelin, Lenaig Abily-Donval, Foudil Lamari, Jonathan London, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Esther Noel, Agathe Masseau, Didier Lacombe, Hélène Maillard, Soumeya Bekri, Olivier Lidove, Olivier Benveniste
Published 2022-02-01

Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label,...

by Thibault Duburcq, Arthur Durand, Anne-Frédérique Dessein, Joseph Vamecq, Jean-Claude Vienne, Dries Dobbelaere, Karine Mention, Claire Douillard, Patrice Maboudou, Valery Gmyr, François Pattou, Mercé Jourdain, Fabienne Tamion, Julien Poissy, Daniel Mathieu, Raphaël Favory
Published 2017-05-01

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

by Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove
Published 2020-01-01

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

by Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste
Published 2018-07-01

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

by Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Published 2022-10-01