Abstract：
:In the field of rare diseases, registries are considered power tool to develop clinical research, to facilitate the planning of appropriate clinical trials, to improve patient care and healthcare planning. Therefore high quality data of rare diseases registries is considered to be one of the most important element in the establishment and maintenance of a registry. Data quality can be defined as the totality of features and characteristics of data set that bear on its ability to satisfy the needs that result from the intended use of the data. In the context of registries, the 'product' is data, and quality refers to data quality, meaning that the data coming into the registry have been validated, and ready for use for analysis and research. Determining the quality of data is possible through data assessment against a number of dimensions: completeness, validity; coherence and comparability; accessibility; usefulness; timeliness; prevention of duplicate records. Many others factors may influence the quality of a registry: development of standardized Case Report Form and security/safety controls of informatics infrastructure. With the growing number of rare diseases registries being established, there is a need to develop a quality validation process to evaluate the quality of each registry. A clear description of the registry is the first step when assessing data quality or the registry evaluation system. Here we report a template as a guide for helping registry owners to describe their registry.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Kodra Y,Posada de la Paz M,Coi A,Santoro M,Bianchi F,Ahmed F,Rubinstein YR,Weinbach J,Taruscio Ddoi
10.1007/978-3-319-67144-4_8subject
Has Abstractpub_date
2017-01-01 00:00:00pages
149-164eissn
0065-2598issn
2214-8019journal_volume
1031pub_type
杂志文章,评审abstract：:Taurine is traditionally used to treat Down Syndrome (DS); however, the actual foundation for this treatment is not well understood. DS patients suffer from disturbance of the proteostasis network (PN) due to aberrant calcium signaling, which eventually causes endoplasmic reticulum stress (ERS). Taurine has been sugge...
journal_title：Advances in experimental medicine and biology
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pub_type： 杂志文章,评审
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pub_type： 杂志文章
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更新日期：2011-01-01 00:00:00
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pub_type： 历史文章,杂志文章
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更新日期：2011-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
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doi：
更新日期：1998-01-01 00:00:00
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pub_type： 杂志文章,评审
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更新日期：2010-01-01 00:00:00
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doi：10.1007/978-94-007-4549-0_39
更新日期：2013-01-01 00:00:00
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pub_type： 杂志文章,评审
doi：10.1007/978-981-15-3449-2_1
更新日期：2020-01-01 00:00:00
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pub_type： 杂志文章,评审
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pub_type： 杂志文章
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更新日期：1995-01-01 00:00:00
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更新日期：1995-01-01 00:00:00
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更新日期：2007-01-01 00:00:00
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pub_type： 杂志文章
doi：10.1007/978-1-4615-5855-2_35
更新日期：1996-01-01 00:00:00
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pub_type： 杂志文章,评审
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更新日期：2018-01-01 00:00:00
