#PMM2

A few weeks ago I was invited by @OphirKlein to give a Zoom talk about @PerlaraPBC’s n-of-1 drug repurposing trials for congenital disorders of glycosylation (#PMM2-CDG and #NGLY-CDDG) to his
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n=1 trial for the treatment of PMM2CDG 6-mo Update Disclaimer: I’m mom to Maggie, age 6. This post is based on my interpretation of Maggie’s progress and should not be
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