Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, et al. Proc Natl Acad Sci U S A. 2011 Nov 8; 108(45):18313-7. Epub 2011 Oct 31.