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

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

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

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

Incidence of Acute Chest Syndrome in Children With Sickle Cell Disease Following Implementation of the 13-Valent Pneumococcal Conjugate Vaccine in France

法国实施13价肺炎球菌结合疫苗后,镰状细胞病患儿急性胸部综合征的发生率

Assad, Zein; Michel, Morgane; Valtuille, Zaba; Lazzati, Andrea; Boizeau, Priscilla; Madhi, Fouad; Gaschignard, Jean; Pham, Luu-Ly; Caseris, Marion; Cohen, Robert; Kaguelidou, Florentia; Varon, Emmanuelle; Alberti, Corinne; Faye, Albert; Angoulvant, François; Koehl, Bérengère; Ouldali, Naïm

A New Gene Family Diagnostic for Intracellular Biomineralization of Amorphous Ca Carbonates by Cyanobacteria

蓝藻胞内非晶态碳酸钙生物矿化作用的新基因家族诊断

Benzerara, Karim; Duprat, Elodie; Bitard-Feildel, Tristan; Caumes, Géraldine; Cassier-Chauvat, Corinne; Chauvat, Franck; Dezi, Manuela; Diop, Seydina Issa; Gaschignard, Geoffroy; Görgen, Sigrid; Gugger, Muriel; López-García, Purificación; Millet, Maxime; Skouri-Panet, Fériel; Moreira, David; Callebaut, Isabelle

Systematic Severe Acute Respiratory Syndrome Coronavirus 2 Screening at Hospital Admission in Children: A French Prospective Multicenter Study

儿童入院时系统性严重急性呼吸综合征冠状病毒2筛查:一项法国前瞻性多中心研究

Poline, Julie; Gaschignard, Jean; Leblanc, Claire; Madhi, Fouad; Foucaud, Elsa; Nattes, Elodie; Faye, Albert; Bonacorsi, Stéphane; Mariani, Patricia; Varon, Emmanuelle; Smati-Lafarge, Mounira; Caseris, Marion; Basmaci, Romain; Lachaume, Noémie; Ouldali, Naïm

[COVID-19 in children: SARS-CoV-2-related inflammatory multisystem syndrome mimicking Kawasaki disease]

[儿童新冠肺炎:SARS-CoV-2相关炎症性多系统综合征,症状类似川崎病]

Mercier, J-C; Maroni, A; Levy, M; Melki, I; Meinzer, U; Gaschignard, J; Beyler, C; Santos, A