A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes
一名37岁智力障碍男子被发现患有天冬氨酰葡糖胺尿症:对遗传病因诊断的启示
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200161
Kouhashi, Mutsuo; Yukawa, Kayoko; Yano, Naoko; Hagemeijer, Marne C; Hirata, Shinya; Kambe, Daisuke; Yokoyama, Atsushi; Yoshida, Akira; Kora, Kengo; de Ronde, Corline J; Vrieswijk, Sandrien; van der Meijden, Eric; Yoshida, Takeshi; Yamashita, Hirofumi