Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31.
Proc Natl Acad Sci U S A. 2011.
PMID: 22042873
Free PMC article.