Blom HJ - Search Results

1

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ. Hagemeijer MC, et al. Among authors: blom hj. JIMD Rep. 2021 May 7;61(1):12-18. doi: 10.1002/jmd2.12223. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485012 Free PMC article.

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

Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease.

van der Put NM, van der Molen EF, Kluijtmans LA, Heil SG, Trijbels JM, Eskes TK, Van Oppenraaij-Emmerzaal D, Banerjee R, Blom HJ. van der Put NM, et al. Among authors: blom hj. QJM. 1997 Aug;90(8):511-7. doi: 10.1093/qjmed/90.8.511. QJM. 1997. PMID: 9327029 Free article.

6

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

7

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.

8

Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis.

Kluijtmans LA, den Heijer M, Reitsma PH, Heil SG, Blom HJ, Rosendaal FR. Kluijtmans LA, et al. Among authors: blom hj. Thromb Haemost. 1998 Feb;79(2):254-8. Thromb Haemost. 1998. PMID: 9493571

9

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ. Kluijtmans LA, et al. Among authors: blom hj. Eur J Hum Genet. 1998 May-Jun;6(3):257-65. doi: 10.1038/sj.ejhg.5200182. Eur J Hum Genet. 1998. PMID: 9781030

10

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.

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