XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes.

IF 3.4 2区 医学 Q2 GENETICS & HEREDITY Orphanet Journal of Rare Diseases Pub Date : 2025-02-03 DOI:10.1186/s13023-024-03387-4
Lothar Seefried, Ferdinando Aliberti, Cathrine Alsaker Heier, Pedro Arango-Sancho, Martin Biosse Duplan, Sophia D Sakka, Francesco Emma, Oliver Gardiner, Muhammad Kassim Javaid, Rui M Ferreira-Santos, Adalbert Raimann, Kristen Rak, Judith S Bubbear, Moira S Cheung, Signe Sparre Beck-Nielsen, Gabriel T Mindler, Agnès Linglart
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来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
期刊介绍: Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
期刊最新文献
XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes. Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder. Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis. Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish. Diagnosis and management of superficial arteriovenous malformations: French healthcare network's recommendations.
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