日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported

全球原发性高草酸尿症的遗传患病率估计值高于先前报道的水平。

Mandrile, Giorgia; Rumsby, Gill; Sciannameo, Veronica; Cogal, Andrea G; Glover, Michelle; Lieske, John C; Harris, Peter C

Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

在基于细胞的平台上对人类 AGT1 中的氨基酸替换进行功能分析,以支持原发性高草酸尿症 1 型的诊断

Gatticchi Leonardo, Bellezza Ilaria, Rumsby Gill, Glover Michelle, Cellini Barbara