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

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

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

专家设计的情况说明书和基于人工智能的患者症状分析,旨在解决遗传代谢疾病诊断延误问题

Cano, Aline; Chen, Xiaoyi; Khemiri, Azza; Brassier, Anais; Jean-Baptiste, Arnoux; Froissart, Roseline; Bouchereau, Juliette; Hoebeke, Célia; Mazodier, Karin; Héron, Bénédicte; Labrune, Philippe; Caillaud, Catherine; Cheillan, David; Nadjar, Yann; Pichard, Samia; Imbard, Apolline; Pettazzoni, Magali; Douillard, Claire; Nadia, Belmatoug; Calatayud, Anna-Line; Zerguini, Mounira; Garcelon, Nicolas; Benoist, Jean-François; Acquaviva, Cécile; De Lonlay, Pascale

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

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

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease

法国国家诊断和治疗方案(Protocole National De Diagnostic et de Soins;PNDS):戈谢病

Camou, Fabrice; Serratrice, Christine; Pettazzoni, Magali; Nadjar, Yann; Brassier, Anaïs; Bekri, Soumeya; Cador-Rousseau, Bérengère; Dagneaux, Louis; Dalbies, Florence; Froissart, Roseline; Genevaz, Delphine; Guemann, Anne-Sophie; Hivert, Bénédicte; Leguy-Seguin, Vanessa; Marcel, Catherine; Masseau, Agathe; Michaud, Martin; Pers, Yves-Marie; Stirnemann, Jérôme; Vergnaud, Sabrina; Nguyen, Yann; Caillaud, Catherine; Pichard, Samia; Berger, Marc G; Belmatoug, Nadia

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

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

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

戈谢病结局调查(GOS)十二年:来自全球患者登记的见解、成就和经验教训

Elstein, Deborah; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Fernandez-Sasso, Diego; Giraldo, Pilar; Göker-Alpan, Özlem; Hughes, Derralynn; Lau, Heather; Lukina, Elena; Revel-Vilk, Shoshana; Schwartz, Ida Vanessa D; Istaiti, Majdolen; Botha, Jaco; Gadir, Noga; Schenk, Jörn; Zimran, Ari

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials

开发和验证戈谢病1型(GD1)特异性患者报告结局指标(PROMs),用于临床监测和临床试验

Elstein, Deborah; Belmatoug, Nadia; Deegan, Patrick; Göker-Alpan, Özlem; Hughes, Derralynn A; Schwartz, Ida Vanessa D; Weinreb, Neal; Bonner, Nicola; Panter, Charlotte; Fountain, Donna; Lenny, Andrew; Longworth, Louise; Miller, Rachael; Shah, Koonal; Schenk, Jörn; Sen, Rohini; Zimran, Ari

Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey

法国溶酶体贮积症患者从儿童医疗保健过渡到成人医疗保健:现状与优先事项——TENALYS 研究,一项患者视角调查

Genevaz, Delphine; Arnoux, Armelle; Marcel, Catherine; Brassier, Anaïs; Pichard, Samia; Feillet, François; Labarthe, François; Chabrol, Brigitte; Berger, Marc; Lapointe, Anne-Sophie; Frigout, Yvann; Héron, Bénédicte; Chatellier, Gilles; Belmatoug, Nadia