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

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

SSADH 缺乏症(一种 GABA 代谢神经递质紊乱)的神经心理学特征

Itay Tokatly Latzer ,Ellen Hanson ,Mariarita Bertoldi ,Melissa L DiBacco ,Deniz Aygun ,Onur Afacan ,Àngeles García-Cazorla ,Natalia Juliá-Palacios ,Thomas Opladen ,Oya Kuseyri Hübschmann ,Kathrin Jeltsch ,Petra Aden ,Mari Oppebøen ,Alexander Rotenberg ,Melissa Tsuboyama ,Jean-Baptiste Roullet ,Phillip L Pearl

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency

新型 ALDH5A1 变体和基因型:SSADH 缺乏症的表型相关性

Melissa L DiBacco, Ana Pop, Gajja S Salomons, Ellen Hanson, Jean-Baptiste Roullet, K Michael Gibson, Phillip L Pearl