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CBS deficiency, a main factor causing homocystinuria, is an autosomal recessively inherited genetic defect

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doi: 10.1210/jc.2005-2153

It is a condition that frequently sits behind chronic digestive issues without being immediately obvious, and identifying it can be the turning point for a dog that has been struggling for some time

The therapy for this ultra-rare disease uses a similar strategy to Intellias liver-targeting treatments for hATTR and HAE: it consists of a Cas12i2 nuclease and guide RNA encapsulated in a lipid nanoparticle (LNP)