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A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.
Rodenburg RJ, Schoonderwoerd GC, Tiranti V, Taylor RW, Rötig A, Valente L, Invernizzi F, Chretien D, He L, Backx GP, Janssen KJ, Chinnery PF, Smeets HJ, de Coo IF, van den Heuvel LP. Rodenburg RJ, et al. Among authors: van den heuvel lp. Mitochondrion. 2013 Jan;13(1):36-43. doi: 10.1016/j.mito.2012.11.004. Epub 2012 Nov 17. Mitochondrion. 2013. PMID: 23164799 Free PMC article.
[Current developments in the diagnosis of Alport syndrome].
Schröder CH, Lemmink HH, van den Heuvel LP, Smeets HJ. Schröder CH, et al. Among authors: van den heuvel lp. Ned Tijdschr Geneeskd. 1995 Jan 14;139(2):66-9. Ned Tijdschr Geneeskd. 1995. PMID: 7838220 Review. Dutch. No abstract available.
Mitochondrial dysfunction in a patient with Joubert syndrome.
Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA. Morava E, et al. Among authors: van bokhoven h, van den heuvel lp. Neuropediatrics. 2005 Jun;36(3):214-7. doi: 10.1055/s-2005-865610. Neuropediatrics. 2005. PMID: 15944909
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: van den brand ma, van den brandt fc, van den heuvel lp. J Med Genet. 2008 Mar;45(3):129-33. doi: 10.1136/jmg.2007.052084. Epub 2007 Oct 22. J Med Genet. 2008. PMID: 17954552
MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.
Zafeiriou DI, Rodenburg RJ, Scheffer H, van den Heuvel LP, Pouwels PJ, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap MS. Zafeiriou DI, et al. Among authors: van den heuvel lp, van der knaap ms. Neuropediatrics. 2008 Jun;39(3):172-5. doi: 10.1055/s-0028-1093336. Epub 2008 Nov 7. Neuropediatrics. 2008. PMID: 18991197
395 results