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

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type

甲基丙二酸尿症cblB型药物陪伴治疗的新视角

S Brasil, A Briso-Montiano, A Gámez, J Underhaug, M I Flydal, L Desviat, B Merinero, M Ugarte, A Martinez, B Pérez

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type

甲基丙二酸血症 cblB 型患者的两种人类 iPSC 系的生成和表征

E Richard, S Brasil, A Briso-Montiano, E Alonso-Barroso, M E Gallardo, B Merinero, M Ugarte, L R Desviat, B Pérez

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

西班牙三家新生儿筛查中心对婴儿极长链酰基辅酶 A 脱氢酶缺乏症的四年诊断经验

B Merinero, P Alcaide, E Martín-Hernández, A Morais, M T García-Silva, P Quijada-Fraile, C Pedrón-Giner, E Dulin, R Yahyaoui, J M Egea, A Belanger-Quintana, J Blasco-Alonso, M L Fernandez Ruano, B Besga, I Ferrer-López, F Leal, M Ugarte, P Ruiz-Sala, B Pérez, C Pérez-Cerdá

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

线粒体对 BCKDK 缺乏症的反应:了解此类自闭症患者积极饮食反应的一些线索

A Oyarzabal, I Bravo-Alonso, M Sánchez-Aragó, M T Rejas, B Merinero, A García-Cazorla, R Artuch, M Ugarte, P Rodríguez-Pombo

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

数据集报告 BCAA 分解代谢受限环境中的 BCKDK 干扰

I Bravo-Alonso, A Oyarzabal, M Sánchez-Aragó, M T Rejas, B Merinero, A García-Cazorla, R Artuch, M Ugarte, P Rodríguez-Pombo

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

甲基丙二酸尿症 cblB 型:两种新突变的特征和线粒体功能障碍研究

S Brasil, E Richard, A Jorge-Finnigan, F Leal, B Merinero, R Banerjee, L R Desviat, M Ugarte, B Pérez