当前位置: X-MOL 学术Hepatology › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
Hepatology ( IF 12.9 ) Pub Date : 2019-11-07 , DOI: 10.1002/hep.30936
Laurent Gouya 1, 2, 3 , Paolo Ventura 4 , Manisha Balwani 5 , D Montgomery Bissell 6 , David C Rees 7 , Ulrich Stölzel 8 , John D Phillips 9 , Raili Kauppinen 10 , Janneke G Langendonk 11 , Robert J Desnick 5 , Jean-Charles Deybach 1, 2, 3 , Herbert L Bonkovsky 12 , Charles Parker 9 , Hetanshi Naik 5 , Michael Badminton 13 , Penelope E Stein 7 , Elisabeth Minder 14 , Jerzy Windyga 15 , Radan Bruha 16 , Maria Domenica Cappellini 17 , Eliane Sardh 18 , Pauline Harper 18 , Sverre Sandberg 19 , Aasne K Aarsand 19 , Janice Andersen 19 , Félix Alegre 20 , Aneta Ivanova 21 , Neila Talbi 1, 2, 3 , Amy Chan 22 , William Querbes 22 , John Ko 22 , Craig Penz 22 , Shangbin Liu 22 , Tim Lin 22 , Amy Simon 22 , Karl E Anderson 23
Affiliation  

Acute hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long‐term complications. There is a lack of multinational, prospective data characterizing the disease and current treatment practices in severely affected patients.

中文翻译:


探索:针对反复发作的急性肝卟啉症患者的前瞻性、跨国、自然史研究



急性肝卟啉症是由参与血红素生物合成的基因突变引起的一组罕见遗传病。患者可能会经历急性神经内脏发作、慢性衰弱症状和长期并发症。缺乏描述该疾病和严重受影响患者当前治疗实践的跨国前瞻性数据。
更新日期:2019-11-07
down
wechat
bug