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

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

发现先天性氨基酸代谢缺陷引起的神经功能障碍的生物标志物组

Alba-Aina Castells, Daniela Gueraldi, Rafel Balada, Alba Tristán-Noguero, Elisenda Cortès-Saladelafont, Federico Ramos, Silvia Meavilla, Mariela De Los Santos, Camila Garcia-Volpe, Roser Colomé, Maria Luz Couce, Cristina Sierra, Aida Ormazábal, Marta Batllori, Rafael Artuch, Judith Armstrong, Soleda

Similarities between acylcarnitine profiles in large for gestational age newborns and obesity

大于胎龄儿与肥胖症的酰基肉碱谱相似性

Paula Sánchez-Pintos, Maria-Jose de Castro, Iria Roca, Segundo Rite, Miguel López, Maria-Luz Couce

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

评估靶向重测序检测作为溶酶体贮积症诊断辅助工具的效果

Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

全球经典型半乳糖血症治疗方法的多样性:诊断、干预和预后的比较

Jumbo-Lucioni, Patricia P; Garber, Kathryn; Kiel, John; Baric, Ivo; Berry, Gerard T; Bosch, Annet; Burlina, Alberto; Chiesa, Ana; Pico, Maria Luz Couce; Estrada, Sylvia C; Henderson, Howard; Leslie, Nancy; Longo, Nicola; Morris, Andrew A M; Ramirez-Farias, Carlett; Schweitzer-Krantz, Susanne; Silao, Catherine Lynn T; Vela-Amieva, Marcela; Waisbren, Susan; Fridovich-Keil, Judith L