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ISSN: 1750-1172 中科院分区: 医学(2区) 开放获取

Orphanet Journal of Rare Diseases

简称 ORPHANET J RARE DIS ·ENGLAND ·出版周期 Irregular ·年均收录 159 篇

3.5

最新影响因子

4.60%

自引率

一般

投稿难度

偏慢,4-8周

审稿周期

影响因子趋势

近期发表

From questions to impact in spinal muscular atrophy - identifying community-driven research priorities through a multi-stakeholder European initiative 2026-09-10

Craniofacial growth in Mulibrey nanism and impact of growth hormone treatment 2026-09-09

The effect of pharmacological therapy on the nutritional status and body composition of children with spinal muscular Atrophy: a systematic review 2026-09-09

Multidimensional analysis of pulmonary blastoma: clinical, bibliometric and bioinformatic insights 2026-09-08

Brittle Bone Society best practice management recommendations for adults with severe Osteogenesis Imperfecta (OI), including type III OI: a consensus statement from a multi-disciplinary severe OI working group 2026-09-08

Augmented glycerophospholipid catabolism coincides with synaptic and cognitive deficits in a mouse model of GNB1 encephalopathy 2026-09-08

Real world data from the Heidelberg Registry of Chronic Singultus (HeReChroS) 2026-09-07

Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER 2026-09-05

Bibliometric mapping of scientific production on maturity-onset diabetes of the young: evolution, hotspots, and future directions 2026-09-05

Advancing continuous glucose monitoring for children and young people with hyperinsulinism – a white paper from the Congenital Hyperinsulinism International Collaborative Research Network 2026-09-04

The withdrawal of beti-cel therapy for β-Thalassemia from the European market: a multistakeholder perspective 2026-09-04

Unlocking MENA’s potential in rare-disease precision medicine 2026-09-04

Test-retest reliability and associations of strength and functional outcome measures in adults with spinal muscular atrophy 2026-09-03

De novo RYR1 variant c.7108_7109delinsAAGCC (p.Gly2370delinsLysPro) causes life-threatening malignant hyperthermia: reclassification from VUS to pathogenic 2026-09-02

Inheritance-dependent genotype–phenotype architecture in DEAF1-associated neurodevelopmental disorders: five unrelated patients with de novo DEAF1 variants and an updated synthesis of 67 individuals 2026-09-02

Long-term efficacy of sapropterin in phenylketonuria: a systematic review and meta-analysis of blood phenylalanine reduction, dietary tolerance, and patient-related outcomes 2026-09-01

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience 2026-08-31

Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN): integrating epidemiological insights with diagnostic and therapeutic progress 2026-08-31

Novel truncating SF1 gene variant in a family with mild neurodevelopmental disorder: expanding the phenotype of SF1-related spliceosomopathy spectrum 2026-08-31

Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay 2026-08-31

期刊信息

ISSN

1750-1172

期刊简称

ORPHANET J RARE DIS

国家/地区

ENGLAND

出版周期

Irregular

中科院分区

医学(2区)

开放获取

Yes

研究领域

医学-医学：研究与实验

收录范围

Science Citation Index Expanded

详细类别

MEDICINERESEARCH & EXPERIMENTAL医学：研究与实验3区GENETICS & HEREDITY遗传学3区

投稿与主页

投稿链接杂志主页

分析服务

Orphanet Journal of Rare Diseases

联系地址

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