van den Heuvel LP - Search Results

1

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: van den heuvel lp. Am J Hum Genet. 1999 Jul;65(1):59-67. doi: 10.1086/302439. Am J Hum Genet. 1999. PMID: 10364517 Free PMC article.

2

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.

van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ. van der Put NM, et al. Among authors: den heyer m, van den heuvel lp. Lancet. 1995 Oct 21;346(8982):1070-1. doi: 10.1016/s0140-6736(95)91743-8. Lancet. 1995. PMID: 7564788 Free article.

3

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: van oost ba, van den heuvel lp. Hum Genet. 1995 Aug;96(2):249-50. doi: 10.1007/BF00207394. Hum Genet. 1995. PMID: 7635485

4

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.

Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, et al. Frosst P, et al. Among authors: den heijer m, van den heuvel lp. Nat Genet. 1995 May;10(1):111-3. doi: 10.1038/ng0595-111. Nat Genet. 1995. PMID: 7647779 Free article.

5

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

Luyten JA, Wenink PW, Steenbergen-Spanjers GC, Wevers RA, Ploos van Amstel HK, de Jong JG, van den Heuvel LP. Luyten JA, et al. Among authors: van den heuvel lp. Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424. Hum Genet. 1995. PMID: 7649558 Free article.

6

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

Lemmink HH, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ. Lemmink HH, et al. Among authors: van oost ba, van den heuvel lp. Hum Mol Genet. 1994 Aug;3(8):1269-73. doi: 10.1093/hmg/3.8.1269. Hum Mol Genet. 1994. PMID: 7987301

7

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: van oost ba, den heijer m, van den heuvel lp. Am J Hum Genet. 1996 Jan;58(1):35-41. Am J Hum Genet. 1996. PMID: 8554066 Free PMC article.

8

Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.

Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJ, Smit LM, ter Laak HJ, van den Heuvel LP. Huizing M, et al. Among authors: van den heuvel lp. Pediatr Res. 1996 May;39(5):760-5. doi: 10.1203/00006450-199605000-00003. Pediatr Res. 1996. PMID: 8726225 Free article.

9

The effect of folic acid on the homocysteine metabolism in human umbilical vein endothelial cells (HUVECs).

van der Molen EF, van den Heuvel LP, te Poele Pothoff MT, Monnens IA, Eskes TK, Blom HJ. van der Molen EF, et al. Among authors: van den heuvel lp. Eur J Clin Invest. 1996 Apr;26(4):304-9. doi: 10.1046/j.1365-2362.1996.137273.x. Eur J Clin Invest. 1996. PMID: 8732488 Free article.

10

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: van den heuvel lp. J Clin Invest. 1996 Jul 15;98(2):285-9. doi: 10.1172/JCI118791. J Clin Invest. 1996. PMID: 8755636 Free PMC article.

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