Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
婴儿型桑德霍夫病:泰国患者的临床表现和一种新的常见突变
期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-020-02481-3
Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-Ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom