日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Janus kinase and calcineurin-inhibitor combination in anti-MDA5 dermatomyositis: No significant survival benefit but reassuring safety profile

Janus激酶抑制剂和钙调磷酸酶抑制剂联合治疗抗MDA5皮肌炎:未见显著生存获益,但安全性良好

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, Arsène; Ullmer, Audrey; Oehler, Erwan; Gensous, Noémie; Berezne, Alice; Martin, Luc De Saint; Marhadour, Thierry; Martin, Mickaël; Servettaz, Amélie; Samson, Maxime; Gilardin, Laurent; Charles, Pierre; Woessner, Juliette; Carmoi, Thierry; Dilly, Baptiste; Mauhin, Wladimir; Baillet, Nicolas; Humbert, Sébastien; 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

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation

延长酶替代疗法治疗稳定型1型戈谢病的间隔时间:一项非劣效性序贯试验模拟研究

Beydon, Maxime; Stirnemann, Jérôme; Yousfi, Karima; Zebiche, Samira; Hamroun, Dalil; Brassier, Anaïs; Pichard, Samia; Swiader, Laure; de Villemeur, Thierry Billette; Héron, Bénédicte; Dalbies, Florence; Cador, Bérengère; Guemann, Anne-Sophie; Gaches, Francis; Hivert, Bénédicte; Leguy-Seguin, Vanessa; Masseau, Agathe; Pers, Yves-Marie; Pettazzoni, Magali; Bekri, Soumeya; Caillaud, Catherine; Guillou, Edouard Le; Szymanowski, Marie; Astudillo, Leonardo; Mauhin, Wladimir; Nadjar, Yann; Serratrice, Christine; Berger, Marc G; Camou, Fabrice; Belmatoug, Nadia; Nguyen, Yann

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases

新冠病毒感染对遗传性代谢疾病患者的影响:法国罕见病医疗网络 (IMDs Healthcare Network for Rare Diseases) 的一项全国多中心研究

Douillard, Claire; Poujois, Aurélia; Belmatoug, Nadia; Lidove, Olivier; Leguy-Seguin, Vanessa; Mauhin, Wladimir; Gorce, Magali; Cano, Aline; Labrune, Philippe; Mazodier, Karin; Wicker, Camille; Maillot, François; Brassier, Anaïs; Guemann, Anne-Sophie; Habes, Dalila; Abi-Warde, Marie-Thérèse; Redonnet-Vernhet, Isabelle; Germain, Dominique P; Lavigne, Christian; Khemiri, Azza; Mention, Karine; Dao, Myriam; Héron, Bénédicte; Berger, Marc G; Lonlay, Pascale de

Inflammatory disorders in IDH-mutated myeloid neoplasms: Characteristics and response to IDH inhibitors

IDH突变型髓系肿瘤的炎症性疾病:特征及对IDH抑制剂的反应

Stammler, Romain; Chen, Peter; Debeaupuis, Orianne; Zhao, Lin-Pierre; Ruyer-Thompson, Mirabelle; Zakine, Eve; Rossignol, Julien; Goldwirt, Lauriane; Comont, Thibault; Heiblig, Maël; Adès, Lionel; Sebert, Marie; Allain, Jean-Sébastien; Campagne, Julien; Couturier, Marie-Anne; Cumin, Marina; Dalmas, Marie-Caroline; Denis, Guillaume; Devloo, Cécile; De Voeght, Adrien; Drevon, Louis; Duffau, Pierre; Georgin-Lavialle, Sophie; Gobert, Delphine; Kosmider, Olivier; Rieux-Laucat, Frédéric; Abisror, Noémie; Lazaro, Estibaliz; Lopez, Jean-Guillaume; Maria, Alexandre; Mauhin, Wladimir; Merindol, Julie; Merlot, Claire; Mirault, Tristan; Pascal, Laurent; Perrin, François; Raffoux, Emmanuel; Rahme, Ramy; Roos-Weil, Damien; Terrier, Benjamin; Thoreau, Benjamin; Fain, Olivier; Fenaux, Pierre; Hirsch, Pierre; Jachiet, Vincent; Hadjadj, Jérôme; Mékinian, Arsène

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades

法国戈谢病流行病学:三十年来的发病率、死亡率、治疗和并发症趋势

Nguyen, Yann; Beydon, Maxime; Yousfi, Karima; Zebiche, Samira; Hamroun, Dalil; Brassier, Anaïs; Pichard, Samia; Swiader, Laure; Billette de Villemeur, Thierry; Héron, Bénédicte; Dalbies, Florence; Cador, Bérengère; Guemann, Anne-Sophie; Gaches, Francis; Hivert, Bénédicte; Leguy-Seguin, Vanessa; Masseau, Agathe; Deshayes, Robin; Pers, Yves-Marie; Pettazzoni, Magali; Bekri, Soumeya; Caillaud, Catherine; Le Guillou, Edouard; Szymanowski, Marie; Astudillo, Leonardo; Mauhin, Wladimir; Nadjar, Yann; Serratrice, Christine; Berger, Marc G; Camou, Fabrice; Belmatoug, Nadia; Stirnemann, Jérôme

Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry

利用靶向高分辨率质谱法定量分析血浆和干血斑中的溶血鞘脂

Ducatez, Franklin; Mauhin, Wladimir; Ottaviani, Jules; Plichet, Thomas; Pilon, Carine; Lidove, Olivier; Barbey, Fréderic; Perrichot, Régine; Vergnaud, Sabrina; Berger, Marc G; Berger, Juliette; Belmatoug, Nadia; Nadjar, Yann; Lamari, Foudil; Noel, Esther; Marret, Stéphane; Bekri, Soumeya; Tebani, Abdellah

A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases

基于多组学的溶酶体疾病精准诊断和治疗框架

Yen, Nguyen Thi Hai; Tien, Nguyen Tran Nam; Thu, Nguyen Quang; Ducatez, Franklin; Mauhin, Wladimir; Lidove, Olivier; Bekri, Soumeya; Tebani, Abdellah; Long, Nguyen Phuoc

Aseptic meningitis and Fabry disease

无菌性脑膜炎和法布里病

Montardi, Camille; Gaudemer, Augustin; Zuber, Mathieu; Vuillemet, Francis; Alexandra, Jean-François; Lidove, Olivier; Mauhin, Wladimir

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; Héron, Bénédicte; Belmatoug, Nadia; Uzunhan, Yurdagül; Lacombe, Didier; Levade, Thierry; Duvivier, Aymeric; Pulikottil-Jacob, Ruth; Laredo, Fernando; Pichard, Samia; Lidove, Olivier

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

非经典法布里病男性患者的鞘氨醇-1-磷酸水平较高

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 Benveniste4