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

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency

三名患有丙酮酸羧化酶缺乏症的斯里兰卡新生儿的临床、生化和分子特征

Jasinge, Eresha; Fernando, Mihika; Indika, Neluwa-Liyanage Ruwan; Ratnayake, Pyara Dilani; Gamaathige, Nalin; Ratnaranjith, Ratnanathan; Schroeder, Sabine; Jones, Patricia; Volha, Skrahina; Jayasena, Subhashinie; Gunaratna, Anusha Varuni; Bandara Ekanayake, Asitha Niroshana; Rolfs, Arndt

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

尿酸是检测先天性代谢缺陷的重要筛查工具:病例系列研究

Jasinge, Eresha; Kularatnam, Grace Angeline Malarnangai; Dilanthi, Hewa Warawitage; Vidanapathirana, Dinesha Maduri; Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike; Chandrasiri, Nambage Dona Priyani Dhammika; Indika, Neluwa Liyanage Ruwan; Ratnayake, Pyara Dilani; Gunasekara, Vindya Nandani; Fairbanks, Lynette Dianne; Stiburkova, Blanka