
Two cases of creatine deficiency syndrome caused by GAMT gene mutations and literature review
ZHAO Ting-Ting, PAN Zou, ZHONG Jian-Min, TANG Hai-Yun, YIN Fei, PENG Jing, CHEN Chen
Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (3) : 340-346.
Two cases of creatine deficiency syndrome caused by GAMT gene mutations and literature review
Creatine deficiency syndrome / GAMT gene / Intellectual disability / Epilepsy / Gene mutation / Child