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

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis

脑腱黄瘤病轻症20年诊断历程

Guay, Simon-Pierre; Paquette, Martine; Poulin, Valérie; Levtova, Alina; Baass, Alexis; Bernard, Sophie

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

人类线粒体 HMG-CoA 合酶缺乏症:酶二聚化表面的作用和三名新患者的特征

Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, Pilar Tobajas Morlana, Alina Levtova, Bernd C Schwahn, Corinne DeLaet, Baiba Lace, Paulino Gómez-Puertas, Juan Pié1

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

PNPO缺乏症新生儿起病癫痫性脑病患者脑脊液中吡哆醛5'-磷酸水平正常

Levtova, Alina; Camuzeaux, Stephane; Laberge, Anne-Marie; Allard, Pierre; Brunel-Guitton, Catherine; Diadori, Paola; Rossignol, Elsa; Hyland, Keith; Clayton, Peter T; Mills, Philippa B; Mitchell, Grant A