Glycine N-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism.
甘氨酸 N-酰基转移酶缺乏症是由 GLYAT 基因纯合无义变异引起的：一种新型先天性代谢缺陷
期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70032
Nourbakhsh Mona, Miryounesi Mohammad, Tale Ali, Karimzadeh Parvaneh, Sadeghi Hossein, Ghasemi Mohammad-Reza, Alipour Nasrin, Pourbakhtyaran Elham, Hooman Nakisa, Razzaghy-Azar Maryam, Nourbakhsh Mitra, Klaas Lil, Schulke Daniel, Sass Jörn Oliver
