Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy - Concepedia

Concepedia

Publication | Open Access

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

DOI Full Paper Access

25

Citations

18

References

2020

Year

Francisco del Caño‐Ochoa, Bobby G. Ng, Malak Abedalthagafi, Mohammed Almannai, Ronald D. Cohn, Gregory Costain, Orly Elpeleg, Henry Houlden, Ehsan Ghayoor Karimiani, Pengfei Liu,

Genetics in Medicine

Abstract

We designed a cell-based assay to test the pathogenicity of CAD variants, identifying 11 CAD-deficient individuals who could benefit from uridine therapy.

References

	Year	Citations

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