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TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S. Wedatilake Y, et al. Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0. Orphanet J Rare Dis. 2016. PMID: 27370603 Free PMC article.
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y, Brown RM, McFarland R, Yaplito-Lee J, Morris AA, Champion M, Jardine PE, Clarke A, Thorburn DR, Taylor RW, Land JM, Forrest K, Dobbie A, Simmons L, Aasheim ET, Ketteridge D, Hanrahan D, Chakrapani A, Brown GK, Rahman S. Wedatilake Y, et al. Orphanet J Rare Dis. 2013 Jul 5;8:96. doi: 10.1186/1750-1172-8-96. Orphanet J Rare Dis. 2013. PMID: 23829769 Free PMC article.