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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: ganetzky r. 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.
Hospitalizations for mitochondrial disease across the lifespan in the U.S.
McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM. McCormack SE, et al. Among authors: ganetzky rd. Mol Genet Metab. 2017 Jun;121(2):119-126. doi: 10.1016/j.ymgme.2017.04.007. Epub 2017 Apr 19. Mol Genet Metab. 2017. PMID: 28442181 Free PMC article.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Wang J, et al. Mol Genet Metab. 2022 Jan;135(1):93-101. doi: 10.1016/j.ymgme.2021.12.006. Epub 2021 Dec 18. Mol Genet Metab. 2022. PMID: 34969639 Free PMC article.
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.
Elander J, McCormick EM, Värendh M, Stenfeldt K, Ganetzky RD, Goldstein A, Zolkipli-Cunningham Z, MacMullen LE, Xiao R, Falk MJ, Ehinger JK. Elander J, et al. Among authors: ganetzky rd. Mol Genet Metab. 2022 Nov;137(3):230-238. doi: 10.1016/j.ymgme.2022.09.002. Epub 2022 Sep 19. Mol Genet Metab. 2022. PMID: 36182714 Free PMC article.
94 results