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Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH. Shayota BJ, et al. Among authors: xiao j. Mol Genet Metab. 2020 Sep-Oct;131(1-2):147-154. doi: 10.1016/j.ymgme.2020.07.013. Epub 2020 Aug 5. Mol Genet Metab. 2020. PMID: 32828637 Free PMC article.
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Ehmke N, et al. Among authors: xiao j. Bone. 2020 Apr;133:115219. doi: 10.1016/j.bone.2019.115219. Epub 2020 Jan 7. Bone. 2020. PMID: 31923704 Free PMC article.
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