Blom HJ - Search Results

1

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ. Mendes MI, et al. Among authors: blom hj. J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23. J Inherit Metab Dis. 2014. PMID: 23974653

2

Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.

Kluijtmans LA, Blom HJ, Boers GH, van Oost BA, Trijbels FJ, van den Heuvel LP. Kluijtmans LA, et al. Among authors: blom hj. Hum Genet. 1995 Aug;96(2):249-50. doi: 10.1007/BF00207394. Hum Genet. 1995. PMID: 7635485

3

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, den Heijer M, Trijbels FJ, Rozen R, Blom HJ. Kluijtmans LA, et al. Among authors: blom hj. Am J Hum Genet. 1996 Jan;58(1):35-41. Am J Hum Genet. 1996. PMID: 8554066 Free PMC article.

4

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

Kluijtmans LA, Boers GH, Stevens EM, Renier WO, Kraus JP, Trijbels FJ, van den Heuvel LP, Blom HJ. Kluijtmans LA, et al. Among authors: blom hj. J Clin Invest. 1996 Jul 15;98(2):285-9. doi: 10.1172/JCI118791. J Clin Invest. 1996. PMID: 8755636 Free PMC article.

5

A common 844INS68 insertion variant in the cystathionine beta-synthase gene.

Kluijtmans LA, Boers GH, Trijbels FJ, van Lith-Zanders HM, van den Heuvel LP, Blom HJ. Kluijtmans LA, et al. Among authors: blom hj. Biochem Mol Med. 1997 Oct;62(1):23-5. doi: 10.1006/bmme.1997.2623. Biochem Mol Med. 1997. PMID: 9367794

6

Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.

Kluijtmans LA, Boers GH, Verbruggen B, Trijbels FJ, Novakova IR, Blom HJ. Kluijtmans LA, et al. Among authors: blom hj. Blood. 1998 Mar 15;91(6):2015-8. Blood. 1998. PMID: 9490685 Free article.

7

Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.

Gaustadnes M, Kluijtmans LA, Jensen OK, Rasmussen K, Heil SG, Kraus JP, Blom HJ, Ingerslev J, Rüdiger N. Gaustadnes M, et al. Among authors: blom hj. FEBS Lett. 1998 Jul 17;431(2):175-9. doi: 10.1016/s0014-5793(98)00743-1. FEBS Lett. 1998. PMID: 9708897 Free article.

8

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.

9

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

Kluijtmans LA, Boers GH, Kraus JP, van den Heuvel LP, Cruysberg JR, Trijbels FJ, Blom HJ. Kluijtmans LA, et al. Among authors: blom hj. Am J Hum Genet. 1999 Jul;65(1):59-67. doi: 10.1086/302439. Am J Hum Genet. 1999. PMID: 10364517 Free PMC article.

10

A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.

Lievers KJ, Kluijtmans LA, Heil SG, Boers GH, Verhoef P, van Oppenraay-Emmerzaal D, den Heijer M, Trijbels FJ, Blom HJ. Lievers KJ, et al. Among authors: blom hj. Eur J Hum Genet. 2001 Aug;9(8):583-9. doi: 10.1038/sj.ejhg.5200679. Eur J Hum Genet. 2001. PMID: 11528503

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