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

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

Retrospective case-control study of nutritional and respiratory status in children with type III esophageal atresia

回顾性病例对照研究:III型食管闭锁患儿的营养和呼吸状况

Chansou, Marie-Alix; Sfeir, Rony; Bonnard, Arnaud; Rousseau, Véronique; Gelas, Thomas; Guinot, Audrey; Habonimana, Edouard; Micheau, Pascale; Ranke, Aline; Talon, Isabelle; Irtan, Sabine; Lamireau, Thierry; Rabattu, Pierre-Yves; Elbaz, Frédéric; Kalfa, Nicolas; Panait, Nicoleta; Fouquet, Virginie; Lardy, Hubert; Scalabre, Aurélien; Buisson, Philippe; Margaryan, Marc; Auber, Frédéric; Grosos, Céline; Borderon, Corinne; Tölg, Cécilia; Goulin, Jeanne; Podevin, Guillaume; Gottrand, Frédéric; Schmitt, Françoise

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

法国一项多中心研究:针对患有先天性代谢缺陷的年轻患者的免疫接种覆盖率和疫苗接种及时性

Renous, Anne-Sophie; Damaj, Lena; Gorce, Magali; Barth, Magalie; Bedu, Antoine; Sacaze, Elise; Lamireau, Delphine; Laroche-Raynaud, Cécile; Pasquier, Laurent; Maakaroun-Vermesse, Zoha; Tardieu, Marine; Labarthe, François

New alternatives to holder pasteurization in processing donor milk in human milk banks

人乳库中捐赠乳处理中巴氏杀菌法的替代新方法

Moro, Guido E; Girard, Melissa; Peila, Chiara; Garcia, Nadia; Escuder-Vieco, Diana; Keller, Kristin; Cassidy, Tanya; Bertino, Enrico; Boquien, Clair-Yves; Buffin, Rachel; Calvo, Javier; Gaya, Antoni; Gebauer, Corinna; Lamireau, Delphine; Lembo, David; Picaud, Jean-Charles; Wesolowska, Aleksandra; Arslanoglu, Sertac; Cavallarin, Laura; Giribaldi, Marzia

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

Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study

卡谷氨酸治疗甲基丙二酸和丙酸尿症的真实世界经验:多中心观察性 PROTECT 研究的中期分析

Yap, Sufin; Lamireau, Delphine; Feillet, Francois; Ruiz Gomez, Angeles; Davison, James; Tangeraas, Trine; Giordano, Vincenzo

Nutritional impact of CFTR modulators in children with cystic fibrosis

CFTR调节剂对囊性纤维化患儿营养的影响

Gaschignard, Margaux; Beaufils, Fabien; Lussac-Sorton, Florian; Gallet, Pauline; Clouzeau, Haude; Menard, Joris; Costanzo, Aurélie; Nouard, Lucie; Delhaes, Laurence; Tetard, Candice; Lamireau, Thierry; Fayon, Michael; Bui, Stéphanie; Enaud, Raphaël

Dietary intake assessment in children with cystic fibrosis using 3-day food diaries: a single-centre study

利用3天食物日记评估囊性纤维化患儿的膳食摄入量:一项单中心研究

Gaschignard, Margaux; Beaufils, Fabien; Gallet, Pauline; Clouzeau, Haude; Menard, Joris; Costanzo, Aurélie; Nouard, Lucie; Delhaes, Laurence; Tetard, Candice; Lamireau, Thierry; Fayon, Michael; Bui, Stéphanie; Enaud, Raphaël

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