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Orphanet Journal of Rare Diseases

短名	Orphanet J Rare Dis
Journal Impact	3.56
国际分区	MEDICINE, RESEARCH & EXPERIMENTAL(Q2)
期刊索引	SCI Q2中科院 2 区

ISSN	1750-1172
h-index	136
国内分区	医学(2区)医学遗传学(2区)医学医学研究与实验(2区)
Top期刊	是

ORPHANET JOURNAL OF RARE DISEASES 是一本开放获取、同行评审的期刊，涵盖了罕见病和孤儿药的各个方面。该杂志发表关于特定罕见疾病的高质量评论。此外，该杂志可能会考虑关于临床试验结果报告的文章，无论是正面的还是负面的，以及关于罕见病和孤儿药领域公共卫生问题的文章。该杂志不接受病例报告。

期刊主页投稿网址

涉及主题	医学生物内科学病理遗传学化学生物化学心理学疾病基因外科儿科精神科内分泌学数学社会学
出版信息	出版商: BioMed Central Ltd，出版周期: Irregular，期刊类型: journal
基本数据	创刊年份: 2006，原创研究文献占比: 83.22%，自引率:5.90%， Gold OA占比: 99.52%
平均审稿周期	网友分享经验：偏慢,4-8周
平均录用比例	网友分享经验：一般

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Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population

2024-9-13

Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

2024-9-13

Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades

2024-9-13

CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids

2024-9-13

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

2024-9-13

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases

2024-9-12

Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems

2024-9-12

Prevalence of hearing loss in pseudohypoparathyroidism

2024-9-12

Meta-analysis of bone mineral density in adults with phenylketonuria

2024-9-12

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements

2024-9-12

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

2024-9-11

Epidemiology of Wilson disease in Germany – real-world insights from a claims data study

2024-9-11

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries

2024-9-9

Preferences for coordinated care for rare diseases: discrete choice experiment

2024-9-9

A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years

2024-9-9

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing

2024-9-9

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea

2024-9-7

A scoping review of health literacy in rare disorders: key issues and research directions

2024-9-6

VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation

2024-9-6

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study

2024-9-6

Social cognition, psychosocial development and well-being in galactosemia

2024-9-6

Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh

2024-9-6

Health service utilization, economic burden and quality of life of patients with mucopolysaccharidosis in China

2024-9-6

Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials

2024-9-5

Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?

2024-9-3

Impact of the COVID-19 pandemic on the quality of care for juvenile idiopathic arthritis patients: insights from Thailand

2024-9-2

Experiences of quality of life and access to health services among rare disease caregivers: a scoping review

2024-8-31

Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective

2024-8-30

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

2024-8-30

Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review

2024-8-30

Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon

2024-8-29

Turner Syndrome where are we?

2024-8-28

The impact of a child’s inborn error of metabolism: the parents’ perspectives on restrictions, discrimination, family planning, and emergency management

2024-8-26

Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier

2024-8-25

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021

2024-8-24

The value of the reflective discussion in decision-making using multi-criteria decision analysis (MCDA): an example of determining the value contribution of tabelecleucel for the treatment of the Epstein Barr virus-positive post-transplant lymphoproliferative disease (EBV+ PTLD)

2024-8-23

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis

2024-8-23

Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis

2024-8-23

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

2024-8-22

Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study

2024-8-22

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency

2024-8-21

Navigating global collaboration: challenges faced by the international network on esophageal atresia

2024-8-21

Patient and carer perceptions of video, telephone and in-person clinics for Phenylketonuria (PKU)

2024-8-20

A case report on Madelung’s disease and comprehensive review of the literature

2024-8-17

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy

2024-8-16

Long-term safety and influence on growth in patients receiving sirolimus: a pooled analysis

2024-8-15

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles

2024-8-15

How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned

2024-8-14

Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study

2024-8-14

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

2024-8-13

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Orphanet Journal of Rare Diseases

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最新文章

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population

Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades

CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases

Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems

Prevalence of hearing loss in pseudohypoparathyroidism

Meta-analysis of bone mineral density in adults with phenylketonuria

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

Epidemiology of Wilson disease in Germany – real-world insights from a claims data study

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries

Preferences for coordinated care for rare diseases: discrete choice experiment

A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea

A scoping review of health literacy in rare disorders: key issues and research directions

VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study

Social cognition, psychosocial development and well-being in galactosemia

Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh

Health service utilization, economic burden and quality of life of patients with mucopolysaccharidosis in China

Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials

Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?

Impact of the COVID-19 pandemic on the quality of care for juvenile idiopathic arthritis patients: insights from Thailand

Experiences of quality of life and access to health services among rare disease caregivers: a scoping review

Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review

Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon

Turner Syndrome where are we?

The impact of a child’s inborn error of metabolism: the parents’ perspectives on restrictions, discrimination, family planning, and emergency management

Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021

The value of the reflective discussion in decision-making using multi-criteria decision analysis (MCDA): an example of determining the value contribution of tabelecleucel for the treatment of the Epstein Barr virus-positive post-transplant lymphoproliferative disease (EBV+ PTLD)

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis

Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency

Navigating global collaboration: challenges faced by the international network on esophageal atresia

Patient and carer perceptions of video, telephone and in-person clinics for Phenylketonuria (PKU)

A case report on Madelung’s disease and comprehensive review of the literature

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy

Long-term safety and influence on growth in patients receiving sirolimus: a pooled analysis

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles

How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned

Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

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