新生儿枫糖尿病BCKDHB基因纯合突变一例报道并文献复习
黄玉梅,麦菁芸,杨祖钦,陈尚勤*
Chinese General Practice . 2017, (17): 2159 -2162 .  DOI: 10.3969/j.issn.1007-9572.2017.17.025