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

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

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

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy

PNPO缺乏症是否应在子宫内治疗?产前吡哆醇治疗的临床发现

de Puyraimond, Chloé; Pichard, Samia; Girard, Muriel; Delanne, Julian; Faivre, Laurence; Imbard, Apolline; Baurand, Amandine; Benoist, Jean-François; Mills, Philippa B; Clayton, Peter T; Schiff, Manuel

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate

肝细胞癌:吡哆醛磷酸治疗患者的严重并发症

Brands, Marion M; de Puyraimond, Chloé; Gospe, Sidney M Jr; Schiff, Manuel M; Jaeger, Bregje; Koot, Bart G; Raphael, Martine F; Lubout, Charlotte M; Soto, Bertrand; Delanne, Julian; Imbard, Apolline; Zempel, John; Kraal, Kathelijne C; Scheenstra, René; Clayton, Peter T

Sex-specific benefits of a combined supplementation of B vitamins, nicotinamide riboside, folate and cobalamin, in a murine model of heart failure.

在小鼠心力衰竭模型中,联合补充 B 族维生素、烟酰胺核苷、叶酸和钴胺素的性别特异性益处。

Boitard Solène E, Delouche Morgane, Karoui Ahmed, Gressette Mélanie, Momken Iman, Bouchard Bertrand, Mercier-Nomé Françoise, Imbard Apolline, Lemaire Christophe, Garnier Anne, Ruiz Matthieu, Mericskay Mathias, Piquereau 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

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies

巩固突变型 ATP2B2 在神经发育和小脑病理学中的作用

Stehr, Antonia M; Lenberg, Jerica; Friedman, Jennifer; Dobbelaere, Dries; Imbard, Apolline; Levy, Jonathan; Donoghue, Sarah; Derive, Nicolas; Stoeva, Radka; Gueguen, Paul; Zech, Michael

Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review

支链氨基酸转移酶2型(BCAT2)缺乏症:第八例病例报告及文献综述

Mondésert, Etienne; Bouchereau, Juliette; Schiff, Manuel; Benoist, Jean-François; Barcia, Guilia; Keren, Boris; Mannes, Inès; Pontoizeau, Clément; Mansat, Charlotte; Imbard, Apolline

Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

接受蛋氨酸合成酶还原酶缺乏症治疗的兄弟姐妹中出现迟发性难治性溶血性贫血:一种罕见的并发症,是否可通过增加羟钴胺素剂量来预防?

Nguyen, Alexandre; Deshayes, Samuel; Nowoczyn, Marie; Imbard, Apolline; Mansour-Hendili, Lamisse; Cesbron, Alexandre; Benoist, Jean François; Schiff, Manuel