Romeijn GJ - Search Results

1

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. Among authors: romeijn gj. Nat Genet. 1999 Jun;22(2):175-7. doi: 10.1038/9691. Nat Genet. 1999. PMID: 10369261

2

Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver.

Wanders RJ, Romeijn GJ. Wanders RJ, et al. Among authors: romeijn gj. J Inherit Metab Dis. 1996;19(2):193-6. doi: 10.1007/BF01799427. J Inherit Metab Dis. 1996. PMID: 8739963 No abstract available.

3

Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.

Wanders RJ, Romeijn GJ. Wanders RJ, et al. Among authors: romeijn gj. Biochem Biophys Res Commun. 1998 Jun 29;247(3):663-7. doi: 10.1006/bbrc.1998.8836. Biochem Biophys Res Commun. 1998. PMID: 9647750

4

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.

Wanders RJ, Romeijn GJ. Wanders RJ, et al. Among authors: romeijn gj. J Inherit Metab Dis. 1998 Jun;21(3):309-12. doi: 10.1023/a:1005353129761. J Inherit Metab Dis. 1998. PMID: 9686383 No abstract available.

5

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: romeijn gj. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

6

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. Among authors: romeijn gj. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768

7

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ. Waterham HR, et al. Among authors: romeijn gj. Am J Hum Genet. 2001 Oct;69(4):685-94. doi: 10.1086/323473. Epub 2001 Aug 22. Am J Hum Genet. 2001. PMID: 11519011 Free PMC article.

8

Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis.

Hogenboom S, Romeijn GJ, Houten SM, Baes M, Wanders RJ, Waterham HR. Hogenboom S, et al. Among authors: romeijn gj. J Lipid Res. 2002 Jan;43(1):90-8. J Lipid Res. 2002. PMID: 11792727 Free article.

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. Among authors: romeijn gj. 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

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. Among authors: romeijn gj. 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.

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