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Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
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.
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.
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.
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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.
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.
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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.
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.
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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.
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.
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