Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
SSADH 缺乏症(一种典型的代谢性神经发育障碍)5 年自然史研究的临床和分子结果
期刊:Journal of Neurodevelopmental Disorders
影响因子:4.1
doi:10.1186/s11689-024-09538-9
Itay Tokatly Latzer ,Jean-Baptiste Roullet ,Wardiya Afshar-Saber ,Henry H C Lee ,Mariarita Bertoldi ,Gabrielle E McGinty ,Melissa L DiBacco ,Erland Arning ,Melissa Tsuboyama ,Alexander Rotenberg ,Thomas Opladen ,Kathrin Jeltsch ,Àngels García-Cazorla ,Natalia Juliá-Palacios ,K Michael Gibson ,Mustafa Sahin ,Phillip L Pearl