Cargando…

Recommendations for Improving the Quality of Rare Disease Registries

Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Refer...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kodra, Yllka, Weinbach, Jérôme, Posada-de-la-Paz, Manuel, Coi, Alessio, Lemonnier, S. Lydie, van Enckevort, David, Roos, Marco, Jacobsen, Annika, Cornet, Ronald, Ahmed, S. Faisal, Bros-Facer, Virginie, Popa, Veronica, Van Meel, Marieke, Renault, Daniel, von Gizycki, Rainald, Santoro, Michele, Landais, Paul, Torreri, Paola, Carta, Claudio, Mascalzoni, Deborah, Gainotti, Sabina, Lopez, Estrella, Ambrosini, Anna, Müller, Heimo, Reis, Robert, Bianchi, Fabrizio, Rubinstein, Yaffa R., Lochmüller, Hanns, Taruscio, Domenica
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121483/ https://www.ncbi.nlm.nih.gov/pubmed/30081484 http://dx.doi.org/10.3390/ijerph15081644

Ejemplares similares

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
por: Gainotti, Sabina, et al.
Publicado: (2018)

Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
por: Gainotti, Sabina, et al.
Publicado: (2018)

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
por: Gainotti, Sabina, et al.
Publicado: (2016)

Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal
por: Armeni, Patrizio, et al.
Publicado: (2021)

Contribution of rare disease patient organisations to medical education
por: von Gizycki, Rainald
Publicado: (2010)

The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry
por: Ali, Salma Rashid, et al.
Publicado: (2021)

Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider
por: Talarico, Rosaria, et al.
Publicado: (2020)

Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006)
por: Masocco, Maria, et al.
Publicado: (2011)

Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome
por: Kodra, Yllka, et al.
Publicado: (2020)

EPIRARE survey on activities and needs of rare disease registries in the European Union
por: Taruscio, Domenica, et al.
Publicado: (2012)

Characterization and classification of Rare Disease Registries by using exploratory data analyses
por: Coi, Alessio, et al.
Publicado: (2014)

The risk of re-identification versus the need to identify individuals in rare disease research
por: Hansson, Mats G, et al.
Publicado: (2016)

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration
por: Taruscio, Domenica, et al.
Publicado: (2014)

The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases
por: Taruscio, Domenica, et al.
Publicado: (2018)

Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy
por: Carbone, Marco, et al.
Publicado: (2020)

RaDiCo, the French national research program on rare disease cohorts
por: Amselem, Serge, et al.
Publicado: (2021)

Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations
por: Courbier, Sandra, et al.
Publicado: (2019)

International Charter of principles for sharing bio-specimens and data
por: Mascalzoni, Deborah, et al.
Publicado: (2015)

Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining
por: Chapple, J. Paul, et al.
Publicado: (2008)

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes
por: Ali, Salma R., et al.
Publicado: (2020)

BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples
por: Holub, Petr, et al.
Publicado: (2016)

THE FORMATION OF MILK SUGAR : THE IN VITRO SYNTHESIS OF LACTOSE BY ACTIVE MAMMARY GLAND PREPARATIONS
por: Weinbach, Ancel P.
Publicado: (1936)

SYSTEMIC SHOCK: A CASE OF POST-COVID-19 MULTISYSTEM INFLAMMATORY SYNDROME IN ADULTS
por: GIZYCKI, CHRISTIAN VON, et al.
Publicado: (2021)

Temporal Orienting and Alerting – The Same or Different?
por: Weinbach, Noam, et al.
Publicado: (2012)

Alerting cues enhance the subitizing process
por: Gliksman, Yarden, et al.
Publicado: (2016)

A Protocol for Integrating Neuroscience Into Studies of Family-Based Treatment for Anorexia Nervosa: An Approach to Research and Potential Benefits for Clinical Care
por: Bohon, Cara, et al.
Publicado: (2019)

The effect of mood on food versus non-food interference among females who are high and low on emotional eating
por: Sambal, Hilla, et al.
Publicado: (2021)

Correction: Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1(G93A) Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice
por: Banks, Gareth T., et al.
Publicado: (2009)

Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1(G93A) Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice
por: Banks, Gareth T., et al.
Publicado: (2009)

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
por: Sernadela, Pedro, et al.
Publicado: (2017)

Controversies over the mechanisms underlying the crucial role of the left fronto-parietal areas in the representation of tools
por: Gainotti, Guido
Publicado: (2013)

The Role of Body-Related and Environmental Sources of Knowledge in the Construction of Different Conceptual Categories
por: Gainotti, Guido
Publicado: (2012)

Why Are the Right and Left Hemisphere Conceptual Representations Different?
por: Gainotti, Guido
Publicado: (2014)

Inborn and experience-dependent models of categorical brain organization. A position paper
por: Gainotti, Guido
Publicado: (2015)

The Role of the Right Hemisphere in Emotional and Behavioral Disorders of Patients With Frontotemporal Lobar Degeneration: An Updated Review
por: Gainotti, Guido
Publicado: (2019)

The Difficult Integration between Human and Animal Studies on Emotional Lateralization: A Perspective Article
por: Gainotti, Guido
Publicado: (2021)

Is There a Causal Link between the Left Lateralization of Language and Other Brain Asymmetries? A Review of Data Gathered in Patients with Focal Brain Lesions
por: Gainotti, Guido
Publicado: (2021)

Emotions and the Right Hemisphere: Editorial
por: Gainotti, Guido
Publicado: (2021)

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
por: Oliva-Teles, Natália, et al.
Publicado: (2020)

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process
por: Munck, Anne, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_l5chl9731chcanm30kpce9q62v