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

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III

溶酶体糖原分解增强与糖原贮积症III型患者的肝脏肿瘤发生有关。

Montalvo-Romeral, Valle; Jauze, Louisa; Perrot, Gwendoline; Amaouche, Mouna; Gardin, Antoine; Aguilar González, Araceli; Leblond, Alicia; Zitoun-Ardon, Carine; Evrard, Félicie; Cosette, Jérémie; Tatout, Christophe; Bordier, Fanny; Bertil-Froidevaux, Emilie; Georger, Christophe; van Wittenberghe, Laetitia; Paradis, Valérie; Gay, Simon; Dujardin, Fanny; Maillot, François; Gautier-Stein, Amandine; Mithieux, Gilles; Malfatti, Edoardo; Mussini, Charlotte; Labrune, Philippe; Mayeuf-Louchart, Alicia; Ronzitti, Giuseppe; Rajas, Fabienne

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

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

六例22q13.2扩增新病例,包括TFC20:首例三倍体和最小重复与神经发育迟缓相关病例报告

Bizot, Etienne; Jouni, Dima; Rooryck, Caroline; Taylor, Juliet; Legendre, Marine; Charbonnier, Lorelei; Metreau, Julia; Benaloun, Emmanuelle; Pinson, Audrey; Quenum, Geneviève; Bouligand, Jérôme; Tachdjian, Gérard; Labrune, Philippe; Tosca, Lucie

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

CIAO1 和 MMS19 缺陷:由胞质铁硫簇蛋白组装障碍引起的致命性神经退行性表型

van Karnebeek, Clara D M; Tarailo-Graovac, Maja; Leen, René; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V; Pena, Izabella A; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L; Drögemöller, Britt I; Grootemaat, Anita E; van der Wel, Nicole N; Dobritzsch, Doreen; Roseboom, Winfried; Schomakers, Bauke V; Jaspers, Yorrick R J; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R; van der Lee, Robin; Ross, Colin J; Kochan, Jakub; McIntyre, Rebecca L; van Klinken, Jan B; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michèl A; Riva, Daria; Garavaglia, Barbara; Moeschler, John B; Filiano, James J; Ekker, Marc; Berman, Jason N; Dyment, David; Vaz, Frédéric M; Wasserman, Wyeth W; Houtkooper, Riekelt H; van Kuilenburg, André B P

French recommendations for the management of glycogen storage disease type III

法国关于糖原贮积症III型管理的建议

Wicker, Camille; Cano, Aline; Decostre, Valérie; Froissart, Roseline; Maillot, François; Perry, Ariane; Petit, François; Voillot, Catherine; Wahbi, Karim; Wenz, Joëlle; Laforêt, Pascal; Labrune, Philippe

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

肾素-血管紧张素系统阻断对I型糖原贮积症肾病的细胞和代谢影响

Monteillet Laure, Labrune Philippe, Hochuli Michel, Do Cao Jeremy, Tortereau Antonin, Miliano Alexane Cannella, Ardon-Zitoun Carine, Duchampt Adeline, Silva Marine, Verzieux Vincent, Mithieux Gilles, Rajas Fabienne

Galactokinase deficiency: lessons from the GalNet registry

半乳糖激酶缺乏症:来自 GalNet 注册研究的启示

Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; Wortmann, Saskia B; Treacy, Eileen P; Timson, David J; Berry, Gerard T

Puberty and fertility in classic galactosemia

经典型半乳糖血症患者的青春期和生育能力

Flechtner, Isabelle; Viaud, Magali; Kariyawasam, Dulanjalee; Perrissin-Fabert, Marie; Bidet, Maud; Bachelot, Anne; Touraine, Philippe; Labrune, Philippe; de Lonlay, Pascale; Polak, Michel

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort

糖原贮积症Ib型患者的感染和消化系统并发症:一项法国队列研究

Wicker, Camille; Roda, Célina; Perry, Ariane; Arnoux, Jean Baptiste; Brassier, Anais; Castelle, Martin; Servais, Aude; Donadieu, Jean; Bouchereau, Juliette; Pigneur, Bénédicte; Labrune, Philippe; Ruemmele, Frank M; de Lonlay, Pascale