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|Alternative name||Rare Diseases Clinical Research Network|
|Restrictions to use||None|
|User data submission||Allowed|
- person_outline Jeffrey Krischer
Publications for Rare Diseases Clinical Research Network
The D519G Polymorphism of Glyceronephosphate O Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda
[…] Patient samples were contributed by investigators participating in the Porphyria Consortium of the Rare Diseases Clinical Research Network (www.rarediseasesnetwork.org/porphyrias). All enrolled patients had clinical and biochemical evidence of PCT including typical skin lesions and elevated concent […]
Resources, challenges and way forward in rare mitochondrial diseases research
[…] e number of collaborative research efforts towards rare diseases including support to institutes and centers, managing patient registry, human bio-specimen repository, to name a few major activities. Rare Diseases Clinical Research Network (RDCRN) ( http://rarediseases.info.nih.gov/research/pages/41/rare-diseases-clinical-research-network), from ORDR, focuses on advancing medical research on rare […]
Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice based evidence framework
[…] hin the Europe-based Network for Genetic Metabolic Diseases Detectable by Newborn Screening (Metabnet), and several collaboratives based in North America (). Of note, the consortia established by the Rare Diseases Clinical Research Network focus on the creation of disease-specific clinical contact registries that primarily act as tools to support the enrollment of patient cohorts in research studi […]
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