The VB12-MVLs platform—particularly VB12-β-MVLs formulation—represents a promising long-acting formulation for MMA, with the potential to reduce dosing frequency and improve the quality of life of pediatric patients while maintaining therapeutic efficacy.
Rui Chang, Yu Lu, Yi-Ming Liu et al.· International Journal of Pha...· 0 citations
Context 17α-hydroxylase/17,20-lyase deficiency (17-OHD), a rare congenital adrenal hyperplasia driven by biallelic CYP17A1 variants, shows extensive clinical and molecular heterogeneity; data on rare phenotypes and genotype–phenotype patterns are scarce. Objective To characterize clinical, hormonal, gonadal pathologica...
He-Meng Chong, Yu-Tong Fu, Xuan Zhang et al.· Frontiers in Endocrinology· 0 citations
Findings establish TXNIP as the first functional candidate susceptibility gene for this phenotype and connect inherited susceptibility to ubiquitin-dependent protein turnover, GLUT1-driven metabolic reprogramming, and PI3K/mTOR-dominant follicular signaling.
Ya-Nan Zhang, Yan Li, Ya-Kun Liu et al.· Molecular and Cellular Endoc...· 0 citations
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