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

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review

中毒和能量缺陷引起的遗传性代谢紊乱的神经认知障碍:系统性综述

Gil-González, Marta; Arias, Carolina; Saudubray, Jean-Marie; Colomé-Roura, Roser; García-Cazorla, Ángeles

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

遗传代谢病简史:个人60年临床回顾

Saudubray, Jean-Marie; Schiff, Manuel

An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

先天性代谢缺陷对大脑的影响概述:从神经发育到神经退行性疾病

Saudubray, Jean-Marie; Garcia-Cazorla, Angela

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

细胞神经代谢:尝试将细胞生物学和神经代谢联系起来

García-Cazorla, Àngels; Saudubray, Jean-Marie

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

鸟氨酸代谢异常会导致显性和隐性遗传性痉挛性截瘫

Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphaël; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frédéric; Loureiro, José L; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny; Stevanin, Giovanni

Endocrine manifestations related to inherited metabolic diseases in adults

成人遗传性代谢疾病相关的内分泌表现

Vantyghem, Marie-Christine; Dobbelaere, Dries; Mention, Karine; Wemeau, Jean-Louis; Saudubray, Jean-Marie; Douillard, Claire

Hypoglycaemia related to inherited metabolic diseases in adults

成人遗传性代谢疾病相关的低血糖症

Douillard, Claire; Mention, Karine; Dobbelaere, Dries; Wemeau, Jean-Louis; Saudubray, Jean-Marie; Vantyghem, Marie-Christine

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib

在魁北克省萨格奈-圣让湖地区,蛋白丢失性肠病-肝纤维化综合征是一种先天性Ib型糖基化障碍。

Vuillaumier-Barrot, S; Le Bizec, C; de Lonlay, P; Barnier, A; Mitchell, G; Pelletier, V; Prevost, C; Saudubray, J M; Durand, G; Seta, N

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

先天性糖基化障碍 I 的广泛临床表现:26 例病例系列研究

de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, B M; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, J M; Cormier-Daire, V

Practical management of hyperinsulinism in infancy

婴儿期高胰岛素血症的实用管理

Aynsley-Green, A; Hussain, K; Hall, J; Saudubray, J M; Nihoul-Fékété, C; De Lonlay-Debeney, P; Brunelle, F; Otonkoski, T; Thornton, P; Lindley, K J