Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
17名马来西亚婴儿型庞贝病患者的基因型、表型和治疗结果,以及3种新的GAA变异体的鉴定
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02848-6
Chan, Mei-Yan; Jalil, Julaina Abdul; Yakob, Yusnita; Wahab, Siti Aishah Abdul; Ali, Ernie Zuraida; Khalid, Mohd Khairul Nizam Mohd; Leong, Huey-Yin; Chew, Hui-Bein; Sivabalakrishnan, Jeya Bawani; Ngu, Lock-Hock