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Orphanet Journal of Rare Diseases is a peer-reviewed journal published by BMC (BioMed Central), covering Genomics and Rare Diseases, Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders. Over its lifetime it has published 5,389 papers, which have received 186,006 citations.
| Publisher | BMC (BioMed Central) |
|---|---|
| Reference style | Numbered (Vancouver) Numbered — [1], [2] in the text 1. Smith A, Jones B, Lee C. A representative article title. Orphanet Journal of Rare Diseases. 2023;12(3):45–58.
Formats any DOI in Orphanet Journal of Rare Diseases style. No sign-up. |
| Publishes research in | Genomics and Rare Diseases Lysosomal Storage Disorders Research Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus Health Systems, Economic Evaluations, Quality of Life |
| ISSN | 1750-1172 |
| Citation impact (2-yr) | 2.97 |
| h-index | 179 |
| i10-index | 2,985 |
| Article processing charge | $2,293 |
| Open access | Yes — indexed in DOAJ |
| Top institutions publishing here | Inserm |
| Journal website | link.springer.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the…
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120,000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological involvement defines the disease severity in most patients but is typically preceded by systemic signs…
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the…
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior…
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss…
