Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
Ben-Salem, Salma; Gleeson, Joseph G.; Al-Shamsi, Aisha M.; Islam, Barira; Hertecant, Jozef; Ali, Bassam R.; Al-Gazali, Lihadh
- 期刊名称Metabolic Brain Disease
- 作者Ben-Salem, Salma; Gleeson, Joseph G.; Al-Shamsi, Aisha M.; Islam, Barira; Hertecant, Jozef; Ali, Bassam R.; Al-Gazali, Lihadh
- 卷第30卷
- 期第3期
- 印刷ISSN0885-7490
- 电子ISSN1573-7365
- 文件大小607.71KB
- 发表时间2015-6
- DOI10.1007/s11011-014-9618-0
- 页码687-694