Review
Open access
Aug 2026
Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China.
Overall, this study comprehensively and systematically depicts the disease profile of BKTD patients in China, providing valuable baseline data for clinical diagnosis and genetic counseling in the country.
Xi Deng, Xinting Li, Haoran Liu et al.
· Molecular Genetics and Metab... · 0 citations