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

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

新南威尔士州麦卡德尔综合征(GSD V)患儿的诊断和治疗

Adams, Louisa; Selvanathan, Arthavan; Batten, Kiera J; van Doorn, Nancy; Thompson, Susan; Mitchell, Ashleigh; Sampaio, Hugo; Dalkeith, Troy; Russell, Jacqui; Ellaway, Carolyn J; Farrar, Michelle; Broderick, Carolyn; Bhattacharya, Kaustuv

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

澳大利亚新南威尔士州30年儿童先天性代谢缺陷肝移植经验

Elserafy, Noha; Thompson, Sue; Dalkeith, Troy; Stormon, Michael; Thomas, Gordon; Shun, Albert; Sawyer, Janine; Balasubramanian, Shanti; Bhattacharya, Kaustuv; Badawi, Nadia; Ellaway, Carolyn

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders

在患有遗传性酮体合成障碍的患者中,DL-3-羟基丁酸钠可用于治疗严重的急性神经代谢障碍。

Bhattacharya, Kaustuv; Matar, Walid; Tolun, Adviye Ayper; Devanapalli, Beena; Thompson, Sue; Dalkeith, Troy; Lichkus, Kate; Tchan, Michel

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

澳大利亚罕见病儿童的诊断经历及对诊断延误后果的感知

Zurynski, Yvonne; Deverell, Marie; Dalkeith, Troy; Johnson, Sandra; Christodoulou, John; Leonard, Helen; Elliott, Elizabeth J