Categoría: Orphanet Journal of Rare Diseases
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Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia
Background Results Conclusions Clinical tria…
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Implementation gaps in phenylketonuria management: a multicenter clinician survey from Turkiye
Background Methods Results Conclusions …
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Should rare and ultrarare diseases be treated differently in health coverage decisions?
Background Methods Results Conclusions …
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The Italian Spina Bifida registry: insights from the first 1,000 patient data
Background Methods Results Conclusions …
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Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCR
Background Methods Results Conclusion …
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Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study
Introduction Methods Results Discussion …