Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South ChinaLing Su, Li Liu, Dongyan Wu et al.|Clinica Chimica Acta|2018Cited by 31
Clinical features, <i>BTD</i> gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern ChinaZongcai Liu, Li Liu, Yanna Cai et al.|American Journal of Medical Genetics Part A|2018Cited by 13
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine diseaseLing Su, Li Liu, Fatao Li et al.|Metabolic Brain Disease|2017Cited by 12
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective studyYunting Lin, Chunhua Zeng, Xi Yin et al.|Frontiers in Pediatrics|2022Cited by 6