Poll-The BT - Search Results

1

Mevalonate kinase deficiency and Dutch type periodic fever.

Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, Duran R, Poll-The BT, Kuis W. Frenkel J, et al. Clin Exp Rheumatol. 2000 Jul-Aug;18(4):525-32. Clin Exp Rheumatol. 2000. PMID: 10949735 Review.

2

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT. Houten SM, et al. Nat Genet. 1999 Jun;22(2):175-7. doi: 10.1038/9691. Nat Genet. 1999. PMID: 10369261

3

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Poll-The BT, Frenkel J, Houten SM, Kuis W, Duran M, de Koning TJ, Dorland L, de Barse MM, Romeijn GJ, Wanders RJ, Waterham HR. Poll-The BT, et al. J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364. J Inherit Metab Dis. 2000. PMID: 10896295 No abstract available.

4

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.

Houten SM, Frenkel J, Kuis W, Wanders RJ, Poll-The BT, Waterham HR. Houten SM, et al. J Inherit Metab Dis. 2000 Jun;23(4):367-70. doi: 10.1023/a:1005687415434. J Inherit Metab Dis. 2000. PMID: 10896296 No abstract available.

5

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768

6

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W. Frenkel J, et al. Rheumatology (Oxford). 2001 May;40(5):579-84. doi: 10.1093/rheumatology/40.5.579. Rheumatology (Oxford). 2001. PMID: 11371670

7

[Identification of the gene for hyper-IgD syndrome: a model of modern genetics].

Drenth JP, Waterham HR, Kuis W, Houten SM, Frenkel J, Wanders RJ, Poll-The BT, van der Meer JW. Drenth JP, et al. Ned Tijdschr Geneeskd. 2000 Apr 22;144(17):782-5. Ned Tijdschr Geneeskd. 2000. PMID: 10800545 Review. Dutch.

8

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.

Soorani-Lunsing RJ, van Spronsen FJ, Stolte-Dijkstra I, Wanders RJ, Ferdinandusse S, Waterham HR, Poll-The BT, Rake JP. Soorani-Lunsing RJ, et al. J Inherit Metab Dis. 2005;28(6):1172-4. doi: 10.1007/s10545-005-0149-z. J Inherit Metab Dis. 2005. PMID: 16435222

9

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

Langius FA, Waterham HR, Romeijn GJ, Oostheim W, de Barse MM, Dorland L, Duran M, Beemer FA, Wanders RJ, Poll-The BT. Langius FA, et al. Am J Med Genet A. 2003 Sep 15;122A(1):24-9. doi: 10.1002/ajmg.a.20207. Am J Med Genet A. 2003. PMID: 12949967

10

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG. Poll-The BT, et al. Am J Med Genet A. 2004 May 1;126A(4):333-8. doi: 10.1002/ajmg.a.20664. Am J Med Genet A. 2004. PMID: 15098231

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

252 results

Search Page

Filters