未登录
分享
收藏
分享
收藏Erratum to Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant [Rev Med Interne 46 (2025) 571-574]勘误:过去20年中的法布里病:对107例患者的队列分析,并聚焦于F113L变异 [Rev Med Interne 46 (2025) 571-574]
Lidove, Olivier; Subran, Benjamin; Montardi, Camille; Besset, Quentin; Mellot, Clara; Baba, Julien Aki; Azar, Chadi; London, Jonathan; Charron, Philippe; Caillaud, Catherine; Lamari, Foudil; Azevedo, Olga; Mauhin, Wladimir
分享
收藏
分享
收藏
分享
收藏Janus kinase and calcineurin-inhibitor combination in anti-MDA5 dermatomyositis: No significant survival benefit but reassuring safety profileJanus kinase与钙调神经磷酸酶抑制剂联合治疗抗-MDA5皮肌炎:无显著生存获益但安全性特征令人放心
Pagis, Valentine; Astouati, Quentin; Pacoureau, Lucas; Nguyen, Yann; Bay, Pierre; Roux, Antoine; Gallay, Laure; Cottin, Vincent; Terrier, Benjamin; Meyer, Alain; Cerf, Charles; Neuville, Mathilde; Hervier, Baptiste; Renaud, Arthur; Suzon, Benoit; Schleinitz, Nicolas; Papo, Thomas; Priou, Pascaline; Mekinian, Arsene; Ullmer, Audrey; Oehler, Erwan; Gensous, Noemie; Berezne, Alice; Martin, Luc De Saint; Marhadour, Thierry; Martin, Mickael; Servettaz, Amelie; Samson, Maxime; Gilardin, Laurent; Charles, Pierre; Woessner, Juliette; Carmoi, Thierry; Dilly, Baptiste; Mauhin, Wladimir; Baillet, Nicolas; Humbert, Sebastien; Thoreau, Benjamin; Lemaitre, Marine; Pendu, Claire Le; Loiseau, Pierre; Quemeneur, Thomas; Blanchard, Elodie; Voermans, Nicol; Launay, David; Nunes, Hilario; Benveniste, Olivier; Uzunhan, Yurdagul; Allenbach, Yves
分享
收藏Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant法布里病在过去20年:对107例患者的队列分析,并重点关注F113L变异体
Lidove, Olivier; Subran, Benjamin; Montardi, Camille; Besset, Quentin; Mellot, Clara; Baba, Julien Aki; Azar, Chadi; London, Jonathan; Charron, Philippe; Caillaud, Catherine; Lamari, Foudil; Azevedo, Olga; Mauhin, Wladimir
分享
收藏
分享
收藏Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up未经治疗、未行脾切除术的戈谢病患者(法国GANT研究):前瞻性随访
Nasce, Alberto; Nguyen, Yann; Belmatoug, Nadia; Yousfi, Karima; Camou, Fabrice; Pettazzoni, Magali; Dalbies, Florence; Cador, Berengere; Brassier, Anais; Pichard, Samia; Hivert, Benedicte; Swiader, Laure; Bertchansky, Ivan; Seguin, Vanessa Leguy; Mauhin, Wladimir; Astudillo, Leonardo; Rainsard, Isabelle Hau; Humbert, Sebastien; Hoebeke, Celia; Hamroun, Dalil; Masseau, Agathe; Berger, Marc G.; Stirnemann, Jerome; Serratrice, Christine
分享
收藏Diagnostic and prognostic performance of positron emission tomography/computed tomography in eosinophilic fasciitis: An observational multicenter retrospective study正电子发射断层扫描/计算机断层扫描在嗜酸性筋膜炎中的诊断和预后表现: 一项观察性多中心回顾性研究
Chevalier, Kevin; Bouaziz, Jean-David; Groh, Matthieu; Allali, Daniele; Belfeki, Nabil; Bourse, Nellie; Cazalets-Lacoste, Claire; Collot, Romain; Flamarion, Edouard; Lacombe, Valentin; Le Scornet, Tanguy; Mauhin, Wladimir; Michaud, Martin; Dupin, Nicolas; Kahn, Jean-Emmanuel; Mouthon, Luc; Chaigne, Benjamin
分享
收藏Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry血浆和干血斑中溶酶体鞘脂的靶向高分辨率质谱定量
Ducatez, Franklin; Mauhin, Wladimir; Ottaviani, Jules; Plichet, Thomas; Pilon, Carine; Lidove, Olivier; Barbey, Frederic; Perrichot, Regine; Vergnaud, Sabrina; Berger, Marc G.; Berger, Juliette; Belmatoug, Nadia; Nadjar, Yann; Lamari, Foudil; Noel, Esther; Marret, Stephane; Bekri, Soumeya; Tebani, Abdellah
分享
收藏Acid sphingomyelinase deficiency in France: a retrospective survival study法国酸性鞘磷脂酶缺乏症: 一项回顾性生存研究
Mauhin, Wladimir; Guffon, Nathalie; Vanier, Marie T.; Froissart, Roseline; Cano, Aline; Douillard, Claire; Lavigne, Christian; Heron, Benedicte; Belmatoug, Nadia; Uzunhan, Yurdagul; Lacombe, Didier; Levade, Thierry; Duvivier, Aymeric; Pulikottil-Jacob, Ruth; Laredo, Fernando; Pichard, Samia; Lidove, Olivier
分享
收藏
分享
收藏Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease
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, Helene; Bekri, Soumeya; Lidove, Olivier; Benveniste, Olivier
分享
收藏
分享
收藏Dissecting Fabry disease biological plasticity using network-based metabolic phenotyping
Tebani, Abdellah; Ducatez, Franklin; Mauhin, Wladimir; Boullier, Agnes; Pilon, Carine; Pereira, Tony; Auber, Raphael; Benveniste, Olivier; Marret, Stephane; Lidove, Olivier; Bekri, Soumeya
分享
收藏
分享
收藏