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

Natural history of adult-onset metachromatic leukodystrophy

成人发病型异染性脑白质营养不良的自然史

Mandia, Daniele; Dufour, Juliette; Fenu, Silvia; Salsano, Ettore; Benzoni, Chiara; Sellal, François; Pariente, Jeremie; Cengiz, Nilgün; Pettazzoni, Magali; Levade, Thierry; Lamari, Foudil; Caillaud, Catherine; La Piana, Roberta; Brassat, David; Durand-Dubief, Françoise; Besson, Gérard; Odent, Sylvie; Devos, David; Barbay, Mélanie; Makrygianni, Maria; Kumperscak, Hojka Gregoric; Froissart, Roseline; Nadjar, Yann

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变异与异染性脑白质营养不良患者的认知衰退和运动功能长期保留相关

Beerepoot, Shanice; Schoenmakers, Daphne H; Fumagalli, Francesca; Groeschel, Samuel; Schöls, Ludger; Schiffmann, Raphael; Wong, Sheila; Boespflug-Tanguy, Odile; Sevin, Caroline; Nadjar, Yann; Bley, Annette; Mochel, Fanny; Horn, Morten A; Baldoli, Cristina; Locatelli, Sara; Hengel, Holger; Laugwitz, Lucia; Hollak, Carla E M; Gieselmann, Volkmar; van der Knaap, Marjo S; Wolf, Nicole I

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

Seroprevalence of dengue, Zika, and chikungunya in São Sebastião, Brazil (2020-2021): a population-based survey

巴西圣塞巴斯蒂昂市登革热、寨卡病毒和基孔肯雅热血清流行率(2020-2021年):一项基于人群的调查

Nobre, Tayane; Fenner, Andre Luiz Dutra; Araújo, Emerson Luiz Lima; de Araújo, Wildo Navegantes; Roux, Emmanuel; Handschumacher, Pascal; Gurgel, Helen; Dallago, Bruno; Hecht, Mariana; Hagström, Luciana; Ramalho, Walter Massa; Nitz, Nadjar

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

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review

沃尔夫拉姆综合征白质异常谱的扩展:一项回顾性研究

Simo, Justin; Lugar, Heather M; Miller, Elka; Wilf-Yarkoni, Adi; Goldberg, Yael; Kocaağa, Ayça; Ito, Shoichi; Cocozza, Sirio; Frontino, Giulio; Baldoli, Cristina; Benbachir, Aziz; Ashton, Catherine; Rouleau, Guy A; Hershey, Tamara; Nadjar, Yann; La Piana, Roberta

Network Analysis of Pathogenesis Markers in Murine Chagas Disease Under Antimicrobial Treatment

抗菌治疗下小鼠恰加斯病发病机制标志物的网络分析

Dias, Nayra; Dias, Marina; Ribeiro, Andressa; Gomes, Nélio; Moraes, Aline; Wesley, Moisés; Gonzaga, Carlito; Ramos, Doralina do Amaral Rabello; Braz, Shélida; Dallago, Bruno; de Carvalho, Juliana Lott; Hagström, Luciana; Nitz, Nadjar; Hecht, Mariana