Article

In-Depth Phenotyping for Clinical Stratification of Gaucher Disease

2021-06-07

Abstract excerpt

<title>Abstract</title> <p>Background The Gaucher Investigative Therapy Evaluation (GAUCHERITE) is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease - an ultra-rare genetic disorder. To inform clinical decision-making and improve pathophysiological understanding, we characterized the course of Gaucher disease and explored the influence of costly innovative medication and other inter...

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Literature Corpus work: 2d32011f-63b8-5bb5-8a2e-6c2229215740
DOI: 10.21203/rs.3.rs-543669/v1

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