van den Heuvel LP - Search Results

1

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. Among authors: van den heuvel lp. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

2

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.

3

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

4

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA. Bräutigam C, et al. Among authors: van den heuvel lp. Clin Chem. 1999 Dec;45(12):2073-8. Clin Chem. 1999. PMID: 10585338

5

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

de Rijk-Van Andel JF, Gabreëls FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, Wevers RA. de Rijk-Van Andel JF, et al. Among authors: van den heuvel lp. Neurology. 2000 Dec 26;55(12):1926-8. doi: 10.1212/wnl.55.12.1926. Neurology. 2000. PMID: 11134401

6

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

DE Lonlay P, Nassogne MC, van Gennip AH, van Cruchten AC, Billatte de Villemeur T, Cretz M, Stoll C, Launay JM, Steenberger-Spante GC, van den Heuvel LP, Wevers RA, Saudubray JM, Abeling NG. DE Lonlay P, et al. Among authors: van gennip ah, van cruchten ac, van den heuvel lp. J Inherit Metab Dis. 2000 Dec;23(8):819-25. doi: 10.1023/a:1026760602577. J Inherit Metab Dis. 2000. PMID: 11196107

7

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.

Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Swaans RJ, et al. Among authors: van den heuvel lp. Ann Hum Genet. 2000 Jan;64(Pt 1):25-31. doi: 10.1017/S0003480000007922. Ann Hum Genet. 2000. PMID: 11246459

8

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP. Janssen RJ, et al. Among authors: van den heuvel lp. Ann Hum Genet. 2000 Sep;64(Pt 5):375-82. doi: 10.1046/j.1469-1809.2000.6450375.x. Ann Hum Genet. 2000. PMID: 11281275

9

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA. Verrips A, et al. Among authors: van den heuvel lp. Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294. Hum Genet. 1996. PMID: 8931710

10

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP. Verrips A, et al. Among authors: van den heuvel lp. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

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