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

por Lebredonchel, Elodie, Duvet, Sandrine, Douillard, Claire, Foulquier, François, Klein, André
Publicado 2021

Plasma Methionine and Clinical Severity in Nitrous Oxide Consumption

por Gernez, Emeline, Deheul, Sylvie, Tard, Céline, Joncquel, Marie, Douillard, Claire, Grzych, Guillaume
Publicado 2022

Endocrine manifestations related to inherited metabolic diseases in adults

por Vantyghem, Marie-Christine, Dobbelaere, Dries, Mention, Karine, Wemeau, Jean-Louis, Saudubray, Jean-Marie, Douillard, Claire
Publicado 2012

Hypoglycaemia related to inherited metabolic diseases in adults

por Douillard, Claire, Mention, Karine, Dobbelaere, Dries, Wemeau, Jean-Louis, Saudubray, Jean-Marie, Vantyghem, Marie-Christine
Publicado 2012

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

por Perry, Ariane, Douillard, Claire, Jonca, Frederic, Glowacki, Francois, Leroy, Xavier, Caveriviere, Paul, Hubert, Aurélie, Labrune, Philippe
Publicado 2020

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

por Mauhin, Wladimir, Borie, Raphaël, Dalbies, Florence, Douillard, Claire, Guffon, Nathalie, Lavigne, Christian, Lidove, Olivier, Brassier, Anaïs
Publicado 2022

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

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

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...

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

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,...

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

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

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

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

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

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

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

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

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