In-depth phenotyping for clinical stratification of Gaucher disease

Abstract 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...

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Bibliografski detalji

Glavni autori:	Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, the MRC GAUCHERITE Consortium
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2021-10-01
Serija:	Orphanet Journal of Rare Diseases
Teme:	Gaucher disease Cohort GAUCHERITE Enzyme replacement therapy Substrate reduction therapy Disease-modifying therapies
Online pristup:	https://doi.org/10.1186/s13023-021-02034-6
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