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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I, Betzler C, Coubes C, Hartmann H, Kaplan JD, Ballhausen D, Koch J, Lotte J, Mohammadi MH, Rohrbach M, Dinopoulos A, Wermuth M, Willis D, Brugger K, Wevers RA, Boltshauser E, Bierau J, Mayr JA, Wortmann SB. Rymen D, et al. Among authors: brugger k. Genet Med. 2020 Oct;22(10):1589-1597. doi: 10.1038/s41436-020-0933-z. Epub 2020 Aug 21. Genet Med. 2020. PMID: 32820246 Free article.
BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.
Yu Q, Tai YY, Tang Y, Zhao J, Negi V, Culley MK, Pilli J, Sun W, Brugger K, Mayr J, Saggar R, Saggar R, Wallace WD, Ross DJ, Waxman AB, Wendell SG, Mullett SJ, Sembrat J, Rojas M, Khan OF, Dahlman JE, Sugahara M, Kagiyama N, Satoh T, Zhang M, Feng N, Gorcsan J 3rd, Vargas SO, Haley KJ, Kumar R, Graham BB, Langer R, Anderson DG, Wang B, Shiva S, Bertero T, Chan SY. Yu Q, et al. Among authors: brugger k. Circulation. 2019 May 7;139(19):2238-2255. doi: 10.1161/CIRCULATIONAHA.118.035889. Circulation. 2019. PMID: 30759996 Free PMC article.