van den Heuvel LP - Search Results

1

Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.

van der Westhuizen FH, van den Heuvel LP, Smeets R, Veltman JA, Pfundt R, van Kessel AG, Ursing BM, Smeitink JA. van der Westhuizen FH, et al. Among authors: van kessel ag, van den heuvel lp. Neuropediatrics. 2003 Feb;34(1):14-22. doi: 10.1055/s-2003-38618. Neuropediatrics. 2003. PMID: 12690563

2

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

van der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ. van der Put NM, et al. Among authors: van den heuvel lp. Am J Hum Genet. 1998 May;62(5):1044-51. doi: 10.1086/301825. Am J Hum Genet. 1998. PMID: 9545395 Free PMC article.

3

Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

Huizing M, Wendel U, Ruitenbeek W, Iacobazzi V, IJlst L, Veenhuizen P, Savelkoul P, van den Heuvel LP, Smeitink JA, Wanders RJ, Trijbels JM, Palmieri F. Huizing M, et al. Among authors: van den heuvel lp. J Inherit Metab Dis. 1998 Jun;21(3):262-7. doi: 10.1023/a:1005324323401. J Inherit Metab Dis. 1998. PMID: 9686371 No abstract available.

4

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. van den Heuvel LP, et al. Hum Genet. 1998 Jun;102(6):644-6. doi: 10.1007/s004390050756. Hum Genet. 1998. PMID: 9703425

5

Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.

Huizing M, Ruitenbeek W, van den Heuvel LP, Dolce V, Iacobazzi V, Smeitink JA, Palmieri F, Trijbels JM. Huizing M, et al. Among authors: van den heuvel lp. J Bioenerg Biomembr. 1998 Jun;30(3):277-84. doi: 10.1023/a:1020501021222. J Bioenerg Biomembr. 1998. PMID: 9733094

6

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.

Smeitink JA, Loeffen JL, Triepels RH, Smeets RJ, Trijbels JM, van den Heuvel LP. Smeitink JA, et al. Among authors: van den heuvel lp. Hum Mol Genet. 1998;7(10):1573-9. doi: 10.1093/hmg/7.10.1573. Hum Mol Genet. 1998. PMID: 9735378 Review.

7

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.

Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA. Loeffen JL, et al. Among authors: van den heuvel lp. Biochem Biophys Res Commun. 1998 Dec 18;253(2):415-22. doi: 10.1006/bbrc.1998.9786. Biochem Biophys Res Commun. 1998. PMID: 9878551

8

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA. Triepels RH, et al. Among authors: van den heuvel lp. Ann Neurol. 1999 Jun;45(6):787-90. doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6. Ann Neurol. 1999. PMID: 10360771

9

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. Among authors: van den heuvel lp. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

10

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA. Coenen MJ, et al. Among authors: van den heuvel lp. Biochem Biophys Res Commun. 1999 Nov 19;265(2):339-44. doi: 10.1006/bbrc.1999.1662. Biochem Biophys Res Commun. 1999. PMID: 10558868

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