Barth PG - Search Results

1

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Among authors: barth pg. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

2

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.

Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M. Poll-The BT, et al. Among authors: barth pg. Mol Genet Metab. 2004 Apr;81(4):295-9. doi: 10.1016/j.ymgme.2003.11.013. Mol Genet Metab. 2004. PMID: 15059617

3

Late onset white matter disease in peroxisome biogenesis disorder.

Barth PG, Gootjes J, Bode H, Vreken P, Majoie CB, Wanders RJ. Barth PG, et al. Neurology. 2001 Dec 11;57(11):1949-55. doi: 10.1212/wnl.57.11.1949. Neurology. 2001. PMID: 11769739

4

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ. Gootjes J, et al. Among authors: barth pg. Neurology. 2002 Dec 10;59(11):1746-9. doi: 10.1212/01.wnl.0000036609.14203.70. Neurology. 2002. PMID: 12473763

5

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ. Gootjes J, et al. Among authors: barth pg. Adv Exp Med Biol. 2003;544:67-8. doi: 10.1007/978-1-4419-9072-3_8. Adv Exp Med Biol. 2003. PMID: 14713214 No abstract available.

6

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. Among authors: barth pg. 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

7

Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings.

ter Rahe BS, Majoie CB, Akkerman EM, den Heeten GJ, Poll-The BT, Barth PG. ter Rahe BS, et al. Among authors: barth pg. AJNR Am J Neuroradiol. 2004 Jun-Jul;25(6):1022-7. AJNR Am J Neuroradiol. 2004. PMID: 15205141 Free PMC article.

8

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.

Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ. Kemp S, et al. Among authors: barth pg. Mol Genet Metab. 2005 Feb;84(2):144-51. doi: 10.1016/j.ymgme.2004.09.015. Mol Genet Metab. 2005. PMID: 15670720

9

High incidence of hyperoxaluria in generalized peroxisomal disorders.

van Woerden CS, Groothoff JW, Wijburg FA, Duran M, Wanders RJ, Barth PG, Poll-The BT. van Woerden CS, et al. Among authors: barth pg. Mol Genet Metab. 2006 Aug;88(4):346-50. doi: 10.1016/j.ymgme.2006.03.004. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621644

10

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR. Ebberink MS, et al. Among authors: barth pg. Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833. Hum Mutat. 2009. PMID: 18712838

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