Home JournalsJournal Details

ISSN: 1750-1172 CAS Zone: Medicine (Zone 2) Open Access

Orphanet Journal of Rare Diseases

Abbr. ORPHANET J RARE DIS ·ENGLAND ·Frequency Irregular ·Avg. articles/yr 159 articles

3.5

Latest IF

4.60%

Self-citation

一般

Submission difficulty

偏慢,4 - 8周

Review cycle

IF Trend

Recent Articles

Clinical characteristics, treatments and outcomes of patients with ornithine transcarbamylase deficiency (OTCD): a retrospective cohort study using a US electronic health record database 2026-09-23

“How can we help our children if no one’s helping us?”: Parent and clinician priorities for mental health support in children with rare genetic conditions who have intellectual and developmental disabilities – a framework analysis 2026-09-23

Multicenter screening of childhood Fabry disease in Shandong Province, China 2026-09-23

Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients 2026-09-20

Genotypic spectrum and genotype-phenotype correlation in multi-ethnic neonates with hyperphenylalaninemia from Xinjiang, China 2026-09-21

Clinical features and management of a series of duodenal duplication cysts in children 2026-09-19

Cortical gyrification abnormalities are coupled with white matter microstructural disruption in dentatorubral-pallidoluysian atrophy 2026-09-19

Expert Delphi consensus on the diagnosis and management of Hypophosphatasia in the Gulf Cooperation Council region 2026-09-18

Clinical outcome assessments in Pompe disease: a pragmatic review of their validity, concept coverage, and value in clinical practice and clinical research 2026-09-18

Adult X-linked hypophosphatemia: multisystem morbidity and no evidence of genotype–phenotype correlation – insights from a Brazilian cohort 2026-09-17

Characteristics, treatment patterns, and outcomes of patients with transthyretin amyloidosis: a large-scale, observational, retrospective study in China (OverTTuRe China) 2026-09-16

CREB3L3 associated severe hypertriglyceridemia: targeted NGS identification of a novel truncating variant and systematic review 2026-09-15

Genotype-informed clinical subtyping and treatment landscape of CSNK2B-related Poirier-Bienvenu neurodevelopmental syndrome 2026-09-15

Fabry Disease Screening and Registry Framework (FDSRF) in Saudi Arabia: Rationale, Design and Implementation 2026-09-15

Real-world clinical use of large neutral amino acids in phenylketonuria: a nationwide survey from Turkey under reimbursement constraints 2026-09-12

Analysis of first-dose fludrocortisone accessibility in patients with salt-wasting congenital adrenal hyperplasia in mainland china: a single-center retrospective study 2026-09-12

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

Journal Info

ISSN

1750-1172

Abbr.

ORPHANET J RARE DIS

Country/Region

ENGLAND

Frequency

Irregular

CAS Zone

Medicine (Zone 2)

Open Access

Yes

Research Area

Medicine - 医学：研究与实验

Coverage

Science Citation Index Expanded

Sub-categories

MEDICINERESEARCH & EXPERIMENTAL医学：研究与实验3区GENETICS & HEREDITYGenetics3区

Submission & Homepage

Submit Homepage

Analysis Services

Orphanet Journal of Rare Diseases

Contact

WeChat Official Account