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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
Molecular Genetics and Metabolism ( IF 3.8 ) Pub Date : 2020-09-25 , DOI: 10.1016/j.ymgme.2020.09.004
Mohamed A Elmonem 1 , Amaya Belanger-Quintana 2 , Andrea Bordugo 3 , Ritma Boruah 4 , Elisenda Cortès-Saladelafont 5 , Mounika Endrakanti 6 , Pilar Giraldo 7 , Sarah Catharina Grünert 8 , Neerja Gupta 6 , Madhulika Kabra 6 , Ina Knerr 4 , Johannes Krämer 9 , Alice Kuster 10 , Elena Levtchenko 11 , Lock-Hock Ngu 12 , M Mar Rovira-Remisa 5 , Jörn Oliver Sass 13 , Jolanta Sykut-Cegielska 14 , Albina Tummolo 15 , Lambertus P van den Heuvel 16
Affiliation  

Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60–80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.



中文翻译:

COVID-19 大流行对先天性代谢缺陷的诊断和治疗的影响:全球视角

目前缺乏对 COVID-19 对先天性代谢缺陷 (IEM) 患者诊断和治疗的全球影响的定量估计。我们从欧洲、亚洲和非洲治疗 IEM 患者的 16 个专业医疗中心收集了相关数据。与 2019 年同期相比,2020 年 3 月 1 日至 5 月 31 日报告的 IEM 相关服务中位数下降高达 60-80%,这对这一弱势患者群体的患者管理和护理产生了深远影响。在这种特殊情况下,需要更具代表性的数据以及结果数据和管理 IEM 疾病的指南。

更新日期:2020-09-25
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