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

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

弹性假黄瘤与遗传性痉挛性截瘫 56 型重叠

A Legrand, C Pujol, C M Durand, A Mesnil, I Rubera, C Duranton, S Zuily, A B Sousa, M Renaud, J L Boucher, N Pietrancosta, S Adham, C Orssaud, C Marelli, C Casali, L Ziccardi, N Villain, C Ewenczyk, A Durr, C Mignot, G Stevanin, C Billon, M Hureaux, X Jeunemaitre, C Goizet, J Albuisson

Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet

一名年轻成人患上威胁视力的苯丙酮尿症性脑病,饮食疗法可逆转该病。

Rubin, S; Piffer, A L Le; Rougier, M B; Delyfer, M N; Korobelnik, J F; Redonnet-Vernhet, I; Marchal, C; Goizet, C; Mesli, S; Gonzalez, C; Gin, H; Rigalleau, V