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

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

Addressing the Global Challenge of Nitrous Oxide Misuse Through a Multidisciplinary Approach: Example of the PROTOSIDE Network

通过多学科方法应对一氧化二氮滥用的全球挑战:PROTOSIDE 网络案例

Grzych, Guillaume; Diesnis, Remy; Dupré, Thierry; Niguet, Jean Paul; Gernez, Emeline; Denimal, Damien; Deheul, Sylvie; Guichard, Jean Claude; Scliffet, Damien; Mégarbane, Bruno; Redonnet-Vernhet, Isabelle; Boucher, Alexandra; Bennis, Anas; Karila, Laurent; Cavalier, Etienne; Rolland, Benjamin; Riou, Christophe; Bossaert, Cécile; Chauvin, Anthony

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

病例报告:揭示非酮症性高甘氨酸血症的遗传和表型变异:一例与新型GLRX5变异相关的非典型早发型病例

Marin, Victor; Lebreton, Louis; Guibet, Claire; Mesli, Samir; Redonnet-Vernhet, Isabelle; Dexant, Mathurin; Lamireau, Delphine; Roche, Sandrine; Gaschignard, Margaux; Delmas, Jean; Margot, Henri; Bar, Claire

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

病例报告:两例晚发型全羧化酶合成酶缺乏症患儿及简要综述

Gaschignard, Margaux; Domenach, Louis; Lamireau, Delphine; Guibet, Claire; Roche, Sandrine; Richard, Emmanuel; Redonnet-Vernhet, Isabelle; Mesli, Samir; Lebreton, Louis

Preventing hyperhomocysteinemia using vitamin B(6) supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

在接受吉伐西兰治疗的急性间歇性卟啉症患者中,补充维生素B6预防高同型半胱氨酸血症:病例报告要点及简要文献综述

Redonnet-Vernhet, Isabelle; Mercié, Patrick; Lebreton, Louis; Blouin, Jean-Marc; Bronnimann, Didier; Mesli, Samir; Guibet, Claire; Ribeiro, Emmanuel; Gensous, Noémie; Duffau, Pierre; Gouya, Laurent; Richard, Emmanuel

Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation

婴儿原发性肉碱缺乏症:一种严重的心脏疾病,补充肉碱后无反应

Louis, Lebreton; Margaux, Gaschignard; Claire, Guibet; Delphine, Lamireau; Sandrine, Roche; Emmanuel, Richard; Cécile, Ged; Samir, Mesli; Isabelle, Redonnet-Vernhet

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas

靶向线粒体三功能蛋白可抑制氧化性肺癌中的肿瘤生长

Nivea Dias Amoedo, Saharnaz Sarlak, Emilie Obre, Pauline Esteves, Hugues Bégueret, Yann Kieffer, Benoît Rousseau, Alexis Dupis, Julien Izotte, Nadège Bellance, Laetitia Dard, Isabelle Redonnet-Vernhet, Giuseppe Punzi, Mariana Figueiredo Rodrigues, Elodie Dumon, Walid Mafhouf, Véronique Guyonnet-Dupé

Downregulation of Glutamine Synthetase, not glutaminolysis, is responsible for glutamine addiction in Notch1-driven acute lymphoblastic leukemia

谷氨酰胺合成酶的下调,而不是谷氨酰胺分解,是导致 Notch1 驱动的急性淋巴细胞白血病中谷氨酰胺成瘾的原因

Tra Ly Nguyen, Marie-Julie Nokin, Silvia Terés, Mercedes Tomé, Clément Bodineau, Oriane Galmar, Jean-Max Pasquet, Benoit Rousseau, Sebastian van Liempd, Juan Manuel Falcon-Perez, Elodie Richard, Elodie Muzotte, Hamid-Reza Rezvani, Muriel Priault, Marion Bouchecareilh, Isabelle Redonnet-Vernhet, Juli

Hyperhomocysteinemia and high doses of nilotinib favor cardiovascular events in chronic phase Chronic Myelogenous Leukemia patients

高同型半胱氨酸血症和高剂量尼洛替尼会增加慢性期慢性粒细胞白血病患者发生心血管事件的风险。

Fossard, Gaëlle; Blond, Emilie; Balsat, Marie; Morisset, Stéphane; Giraudier, Stéphane; Escoffre-Barbe, Martine; Labussière-Wallet, Hélène; Heiblig, Maël; Bert, Arthur; Etienne, Madeleine; Drai, Jocelyne; Sobh, Mohamad; Redonnet-Vernhet, Isabelle; Lega, Jean-Christophe; Mahon, François-Xavier; Etienne, Gabriel; Nicolini, Franck Emmanuel

Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet

一名年轻成人患上威胁视力的苯丙酮尿症性脑病,饮食疗法可逆转该病。

Rubin, S; Piffer, A L Le; Rougier, M B; Delyfer, M N; Korobelnik, J F; Redonnet-Vernhet, I; Marchal, C; Goizet, C; Mesli, S; Gonzalez, C; Gin, H; Rigalleau, V