Houten SM - Search Results

1

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM. Hagen J, et al. Among authors: houten sm. J Inherit Metab Dis. 2015 Sep;38(5):873-9. doi: 10.1007/s10545-015-9841-9. Epub 2015 Apr 10. J Inherit Metab Dis. 2015. PMID: 25860818

2

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

3

[Identification of the gene for hyper-IgD syndrome: a model of modern genetics].

Drenth JP, Waterham HR, Kuis W, Houten SM, Frenkel J, Wanders RJ, Poll-The BT, van der Meer JW. Drenth JP, et al. Among authors: houten sm. Ned Tijdschr Geneeskd. 2000 Apr 22;144(17):782-5. Ned Tijdschr Geneeskd. 2000. PMID: 10800545 Review. Dutch.

4

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Poll-The BT, Frenkel J, Houten SM, Kuis W, Duran M, de Koning TJ, Dorland L, de Barse MM, Romeijn GJ, Wanders RJ, Waterham HR. Poll-The BT, et al. Among authors: houten sm. J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364. J Inherit Metab Dis. 2000. PMID: 10896295 No abstract available.

5

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.

Houten SM, Frenkel J, Kuis W, Wanders RJ, Poll-The BT, Waterham HR. Houten SM, et al. J Inherit Metab Dis. 2000 Jun;23(4):367-70. doi: 10.1023/a:1005687415434. J Inherit Metab Dis. 2000. PMID: 10896296 No abstract available.

6

Mevalonate kinase deficiency and Dutch type periodic fever.

Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, Duran R, Poll-The BT, Kuis W. Frenkel J, et al. Among authors: houten sm. Clin Exp Rheumatol. 2000 Jul-Aug;18(4):525-32. Clin Exp Rheumatol. 2000. PMID: 10949735 Review.

7

Biochemical and genetic aspects of mevalonate kinase and its deficiency.

Houten SM, Wanders RJ, Waterham HR. Houten SM, et al. Biochim Biophys Acta. 2000 Dec 15;1529(1-3):19-32. doi: 10.1016/s1388-1981(00)00135-9. Biochim Biophys Acta. 2000. PMID: 11111075 Review.

8

Nonorthologous gene displacement of phosphomevalonate kinase.

Houten SM, Waterham HR. Houten SM, et al. Mol Genet Metab. 2001 Mar;72(3):273-6. doi: 10.1006/mgme.2000.3133. Mol Genet Metab. 2001. PMID: 11243736

9

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768

10

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W. Frenkel J, et al. Among authors: houten sm. Rheumatology (Oxford). 2001 May;40(5):579-84. doi: 10.1093/rheumatology/40.5.579. Rheumatology (Oxford). 2001. PMID: 11371670

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