ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.
Widmeier E, Yu S, Nag A, Chung YW, Nakayama M, Fernandez-Del-Rio L, Hugo H, Schapiro D, Buerger F, Choi WI, Helmstadter M, Kim JW, Ryu JH, Lee MG, Clarke CF, Hildebrandt F, Gee HY
J Am Soc Nephrol. 2020 Jun;31(6):1191-1211. doi: 10.1681/ASN.2019070756. Epub 2020 May 7.
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