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Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, Mariman E, van den Heuvel LP, Wendel U, Koch G, Smeitink JA. Okhuijsen-Kroes EJ, et al. Among authors: smeitink ja. Neuropediatrics. 2001 Aug;32(4):183-90. doi: 10.1055/s-2001-17372. Neuropediatrics. 2001. PMID: 11571698 Review.
Human mitochondrial complex I in health and disease.
Smeitink J, van den Heuvel L. Smeitink J, et al. Am J Hum Genet. 1999 Jun;64(6):1505-10. doi: 10.1086/302432. Am J Hum Genet. 1999. PMID: 10330338 Free PMC article. Review. No abstract available.
Mitochondrial disease: needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase.
Noorda G, Hermans-Peters M, Smeitink J, van Achterberg T, Kemps H, Goverde W, Schoonhoven L. Noorda G, et al. Among authors: smeitink j. J Inherit Metab Dis. 2007 Jun;30(3):333-40. doi: 10.1007/s10545-007-0426-0. Epub 2007 May 11. J Inherit Metab Dis. 2007. PMID: 17508266 Free PMC article.
Fumarase deficiency presenting with periventricular cysts.
Loeffen J, Smeets R, Voit T, Hoffmann G, Smeitink J. Loeffen J, et al. Among authors: smeitink j. J Inherit Metab Dis. 2005;28(5):799-800. doi: 10.1007/s10545-005-0044-7. J Inherit Metab Dis. 2005. PMID: 16151915
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