ArticleBlood transfusion = Trasfusione del sangue2014
The Italian National Rare Diseases Registry.
Article in Blood transfusion = Trasfusione del sangue, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed.
- Launching a multi-level data strategy for rare eye diseases: a methodological case study from national to European scale.Orphanet journal of rare diseases · 2026Article
- Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification.Journal of medical systems · 2026Article
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needs.Orphanet journal of rare diseases · 2026Article
- Knowledge management tools and mechanisms for evidence-informed decision-making in the WHO European Region: a scoping review.Health research policy and systems · 2023Article
- Current state of rare disease registries and databases in Australia: a scoping review.Orphanet journal of rare diseases · 2023Article
- Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks.Frontiers in pediatrics · 2023Article
- Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.Intractable & rare diseases research · 2022Review
- The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.Orphanet journal of rare diseases · 2021Article
- 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.Orphanet journal of rare diseases · 2021Article
- Reducing the diagnostic delay in Antiphospholipid Syndrome over time: a real world observation.Orphanet journal of rare diseases · 2021Article
- Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy.International journal of environmental research and public health · 2020Article
- The Caregiving Experiences of Fathers and Mothers of Children With Rare Diseases in Italy: Challenges and Social Support Perceptions.Frontiers in psychology · 2019Article
- [Implementing a population-based rare diseases registry in Spain: the Navarre´s experience].Revista espanola de salud publica · 2018Article
- The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.International journal of environmental research and public health · 2018Article
- Haemophilia Centre Certification Systems: optional or optimal choice for healthcare systems?Blood transfusion = Trasfusione del sangue · 2014Article
- The Italian National Plan for Rare Diseases.Blood transfusion = Trasfusione del sangue · 2014Review
- Definition of an organisational model for the prevention and reduction of health and social impacts of inherited bleeding disorders.Blood transfusion = Trasfusione del sangue · 2014Article
- Piedmont and Aosta Valley inter-regional network in the context of the Italian National Network for rare diseases.Blood transfusion = Trasfusione del sangue · 2014Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionRare disease registries are a priority at European level and specific actions are being implemented by the European Commission to support their development.In Italy, a National Registry of rare diseases has been established in 2001 as a network of regional registries. The latter have gradually been established and the full coverage of the Italian territory was attained during 2011.
methodsHere we describe the basic features of the National Registry of rare diseases; the activities carried out to promote consistent operations in the regional registries; and the overall quality and composition of the records collected.
resultsAfter a validation process, including removal of duplicate records, 110,841 records of patients with rare diseases, single and with group denominations, are stored in the National Registry of rare diseases. They correspond to the overall diagnoses communicated to national registry by regional registries up to 30 June 2012.The quality of the data collected by the the National Registry of rare diseases has been assessed with respect to completeness and consistency of procedures. Variables characterising case and diagnosis showed a very limited number of missing values. Records reported at least one case of 485 rare conditions. DISCUSSION: To date, the National Registry of rare diseases is a surveillance system with the main objective of producing epidemiologic evidence on rare diseases in Italy, and of supporting policy making and health services planning.Data quality still represents a limitation for any sound epidemiological estimate of rare diseases in Italy. However, improvements of the quality of collected data and the completeness of case notifications should be strengthened.
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