https://www.selleckchem.com/pr....oducts/autophinib.ht
To provide strategies for monitoring and treating severe lung involvement in Gaucher disease. We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease (GD) and improved after allogeneic hematopoietic stem cell transplant (HSCT), along with other case studies reported before December 2019. He was diagnosed with GD (homozygous mutation at c.1448TC, p.L483P), and started receiving enzyme replacement therapy (ERT) at 17months old. He developed respiratory dis
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