# Orphanet Journal of Rare Diseases

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/orphanet-journal-of-rare-diseases/

## Facts

| Field | Value |
| --- | --- |
| APC (USD) | 2,790 |
| Citations | 187,132 |
| h-index | 180 |
| Homepage | https://link.springer.com/journal/13023/volumes-and-issues |
| Open Access | true |
| ISSN-L | 1750-1172 |
| ISSNs | 1750-1172 |
| OpenAlex ID | https://openalex.org/S71291065 |
| Publisher | BioMed Central |
| Works | 5,424 |

## Journal papers

Showing 12 of 55.

- [Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review](https://scholariq.org/papers/prevalence-incidence-and-carrier-frequency-of-5q-linked-spinal-muscular-atrophy/)
- [Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia](https://scholariq.org/papers/proposed-guidelines-for-the-diagnosis-and-management-of-methylmalonic-and/)
- [Suggested guidelines for the diagnosis and management of urea cycle disorders](https://scholariq.org/papers/suggested-guidelines-for-the-diagnosis-and-management-of-urea-cycle-disorders/)
- [Systemic lupus erythematosus](https://scholariq.org/papers/systemic-lupus-erythematosus/)
- [The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review](https://scholariq.org/papers/the-burden-epidemiology-costs-and-treatment-for-duchenne-muscular-dystrophy-an/)
- [Congenital hyperinsulinism: current trends in diagnosis and therapy](https://scholariq.org/papers/congenital-hyperinsulinism-current-trends-in-diagnosis-and-therapy/)
- [Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document](https://scholariq.org/papers/recommendations-for-initiation-and-cessation-of-enzyme-replacement-therapy-in/)
- [Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support](https://scholariq.org/papers/australian-families-living-with-rare-disease-experiences-of-diagnosis-health/)
- [Mucopolysaccharidosis VI](https://scholariq.org/papers/mucopolysaccharidosis-vi/)
- [FGF23 and its role in X-linked hypophosphatemia-related morbidity](https://scholariq.org/papers/fgf23-and-its-role-in-x-linked-hypophosphatemia-related-morbidity/)
- [McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia](https://scholariq.org/papers/mccune-albright-syndrome-and-the-extraskeletal-manifestations-of-fibrous/)
- [Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays](https://scholariq.org/papers/australian-children-living-with-rare-diseases-experiences-of-diagnosis-and/)

## Journal top topics

Showing 8 of 25.

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Lysosomal Storage Disorders Research](https://scholariq.org/topics/lysosomal-storage-disorders-research/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Glycogen Storage Diseases and Myoclonus](https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/)
- [Health Systems, Economic Evaluations, Quality of Life](https://scholariq.org/topics/health-systems-economic-evaluations-quality-of-life/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.