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

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

大海捞针?靶向癫痫基因检测在识别一种可治疗但进展迅速的代谢性癫痫(CLN2 病)中的作用

Lourenço, Charles Marques; Sallum, Juliana Maria Ferraz; Pereira, Alessandra Marques; Girotto, Paula Natale; Kok, Fernando; Vilela, Daniel Reda Fenga; Barron, Erika; Pessoa, André; Oliveira, Bibiana Mello de

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil

苯丙酮尿症患者的神经心理学和生活质量结局:巴西评估工具的专家建议

Schwartz, Ida Vanessa Doederlein; Quesada, Andrea Amaro; Ribeiro, Erlane Marques; Martins, Ana Maria; Vilela, Daniel Reda Fenga; Pessoa, André