van den Heuvel LP - Search Results

1

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

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

Expression and characterization of human perlecan domains I and II synthesized by baculovirus-infected insect cells.

Groffen AJ, Buskens CA, Tryggvason K, Veerkamp JH, Monnens LA, van den Heuvel LP. Groffen AJ, et al. Among authors: van den heuvel lp. Eur J Biochem. 1996 Nov 1;241(3):827-34. doi: 10.1111/j.1432-1033.1996.00827.x. Eur J Biochem. 1996. PMID: 8944771 Free article.

4

Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring.

van der Put NM, van den Heuvel LP, Steegers-Theunissen RP, Trijbels FJ, Eskes TK, Mariman EC, den Heyer M, Blom HJ. van der Put NM, et al. Among authors: den heyer m, van den heuvel lp. J Mol Med (Berl). 1996 Nov;74(11):691-4. doi: 10.1007/s001090050073. J Mol Med (Berl). 1996. PMID: 8956155

5

Agrin is a major heparan sulfate proteoglycan in the human glomerular basement membrane.

Groffen AJ, Ruegg MA, Dijkman H, van de Velden TJ, Buskens CA, van den Born J, Assmann KJ, Monnens LA, Veerkamp JH, van den Heuvel LP. Groffen AJ, et al. Among authors: van den born j, van de velden tj, van den heuvel lp. J Histochem Cytochem. 1998 Jan;46(1):19-27. doi: 10.1177/002215549804600104. J Histochem Cytochem. 1998. PMID: 9405491

6

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.

7

Primary structure and high expression of human agrin in basement membranes of adult lung and kidney.

Groffen AJ, Buskens CA, van Kuppevelt TH, Veerkamp JH, Monnens LA, van den Heuvel LP. Groffen AJ, et al. Among authors: van kuppevelt th, van den heuvel lp. Eur J Biochem. 1998 May 15;254(1):123-8. doi: 10.1046/j.1432-1327.1998.2540123.x. Eur J Biochem. 1998. PMID: 9652404 Free article.

8

Genetic characteristics of myoadenylate deaminase deficiency.

Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA. Verzijl HT, et al. Among authors: van engelen bg, van den heuvel lp. Ann Neurol. 1998 Jul;44(1):140-3. doi: 10.1002/ana.410440124. Ann Neurol. 1998. PMID: 9667605 Clinical Trial.

9

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.

10

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

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