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Page 1
The evolution of the mitochondrial disease diagnostic odyssey.
Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. Thompson JLP, et al. Among authors: holbert a. Orphanet J Rare Dis. 2023 Jun 22;18(1):157. doi: 10.1186/s13023-023-02754-x. Orphanet J Rare Dis. 2023. PMID: 37349818 Free PMC article.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S; Members of the Urea Cycle Disorders Consortium. Waisbren SE, et al. Among authors: holbert a. J Inherit Metab Dis. 2018 Jul;41(4):657-667. doi: 10.1007/s10545-017-0132-5. Epub 2018 Feb 8. J Inherit Metab Dis. 2018. PMID: 29423830 Free PMC article.
Mitochondrial disease patients' perception of dietary supplements' use.
Karaa A, Kriger J, Grier J, Holbert A, Thompson JL, Parikh S, Hirano M. Karaa A, et al. Among authors: holbert a. Mol Genet Metab. 2016 Sep;119(1-2):100-8. doi: 10.1016/j.ymgme.2016.07.005. Epub 2016 Jul 16. Mol Genet Metab. 2016. PMID: 27444792 Free PMC article.
Correction to: The evolution of the mitochondrial disease diagnostic odyssey.
Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. Thompson JLP, et al. Among authors: holbert a. Orphanet J Rare Dis. 2023 Jul 20;18(1):194. doi: 10.1186/s13023-023-02832-0. Orphanet J Rare Dis. 2023. PMID: 37474973 Free PMC article. No abstract available.
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH. Ashizawa T, et al. Among authors: holbert ar. Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177. Orphanet J Rare Dis. 2013. PMID: 24225362 Free PMC article.