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

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

严重甲基丙二酸血症和丙酸血症的营养管理:多少医用食品才算过量?

Margoses, Diane; Imbard, Apolline; Pontoizeau, Clément; Brassier, Anaïs; Arnoux, Jean-Baptiste; Bouchereau, Juliette; Bérat, Claire-Marine; Assoun, Murielle; Belloche, Claire; Dewulf, Sabine; Dubois, Sandrine; Samba, Bénédicte; Servais, Aude; Dao, Myriam; Le Guillou, Edouard; de Colnet, Amélie; Ottolenghi, Chris; de Lonlay, Pascale; Benoist, Jean-François; Schiff, Manuel

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris

科摩罗群岛严重精氨酸酶1缺乏症聚集性病例:马约特岛17例患者与巴黎10例患者的临床、神经影像学和分子特征比较

De Bruyne, Aurélie; Imbard, Apolline; Roux, Charles-Joris; Chamouine, Abdourhahim; Schwab, Camille; Brassier, Anaïs; Arnoux, Jean-Baptiste; Bouchereau, Juliette; Laroche-Raynaud, Cécile; Mekdade, Tristan; Gaschignard, Margaux; Berat, Claire-Marine; Pontoizeau, Clément; Gobin-Limballe, Stéphanie; de Lonlay, Pascale; Benoist, Jean-François; Schiff, Manuel

Long-Term Follow-Up of Patients With Transaldolase Deficiency

转醛醇酶缺乏症患者的长期随访

Scaglione, M; Brassier, A; Wiedemann, A; Jankowska, I; Pawłowska, J; Lamireau, T; Bridoux-Henno, L; Douillard, C; Casswall, T; Cucinotta, U; Gaschignard, M; Socha, P; Feillet, F; Fischler, B; Samara-Boustani, D; Schiaffino, M C; Schiff, M; De Lonlay, P; Lacaille, F

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort

甲基丙二酸血症患者移植后急性神经系统并发症:一项纳入35例患者的法国队列研究

Vissac, Adélaïde; Sarda, Eugénie; Roux, Charles-Joris; Schiff, Manuel; Bérat, Claire-Marine; Bouchereau, Juliette; Arnoux, Jean-Baptiste; de Puyraimond, Chloé; Gaschignard, Margaux; Mekdade, Tristan; Cucinotta, Ugo; Mayer, Claire; Barbier, Valérie; Benoist, Jean François; Oualha, Mehdi; Capito, Carmen; Chardot, Christophe; Dao, Myriam; Servais, Aude; Francoz, Claire; Dehoux, Laurène; Lacaille, Florence; Desguerre, Isabelle; Boddaert, Nathalie; de Lonlay, Pascale; Brassier, Anaïs

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

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders

在对脂肪酸β-氧化障碍患者进行随访时,评估运动时循环反应与氧摄取量的关系。

Imbard, Apolline; de Calbiac, Hortense; Le Guillou, Edouard; Laforêt, Pascal; Schiff, Manuel; Brassier, Anaïs; Thevenet, Elise; Pontoizeau, Clément; Lefrère, Bertrand; Ottolenghi, Chris; Lebigot, Elise; Gaignard, Pauline; Gobin, Stéphanie; Acquaviva-Bourdain, Cécile; Benoist, Jean-François; Tuchmann-Durand, Caroline; Legendre, Antoine; de Lonlay, Pascale

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