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Cerebral folate deficiency.
Hyland K, Shoffner J, Heales SJ. Hyland K, et al. Among authors: shoffner j. J Inherit Metab Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159-6. Epub 2010 Jul 29. J Inherit Metab Dis. 2010. PMID: 20668945 Review.
Diseases resulting from mitochondrial DNA point mutations.
Wallace DC, Lott MT, Shoffner JM, Brown MD. Wallace DC, et al. Among authors: shoffner jm. J Inherit Metab Dis. 1992;15(4):472-9. doi: 10.1007/BF01799605. J Inherit Metab Dis. 1992. PMID: 1528007 Review.
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants. Karaa A, et al. Among authors: shoffner j. J Inherit Metab Dis. 2018 Jan;41(1):151. doi: 10.1007/s10545-017-0081-z. J Inherit Metab Dis. 2018. PMID: 28980269 Free PMC article. No abstract available.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:. Karaa A, et al. Among authors: shoffner j. J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. J Inherit Metab Dis. 2017. PMID: 28303425 Free PMC article.
88 results