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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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Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2021-10-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Gaucher disease
Cohort
GAUCHERITE
Enzyme replacement therapy
Substrate reduction therapy
Disease-modifying therapies
Acesso em linha:https://doi.org/10.1186/s13023-021-02034-6
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