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In-depth phenotyping for clinical stratification of Gaucher disease

BACKGROUND: The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and improve pathophysiological understanding, we characterized the cour...

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Detalles Bibliográficos
Autores principales:	D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8515714/ https://www.ncbi.nlm.nih.gov/pubmed/34649574 http://dx.doi.org/10.1186/s13023-021-02034-6

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