Poll-The BT - Search Results

1

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

2

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Berendse K, Ebberink MS, Ijlst L, Poll-The BT, Wanders RJ, Waterham HR. Berendse K, et al. Orphanet J Rare Dis. 2013 Sep 9;8:138. doi: 10.1186/1750-1172-8-138. Orphanet J Rare Dis. 2013. PMID: 24016303 Free PMC article.

3

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. Neurology. 2002 Dec 10;59(11):1746-9. doi: 10.1212/01.wnl.0000036609.14203.70. Neurology. 2002. PMID: 12473763

4

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Barth PG, Majoie CB, Gootjes J, Wanders RJ, Waterham HR, van der Knaap MS, de Klerk JB, Smeitink J, Poll-The BT. Barth PG, et al. Neurology. 2004 Feb 10;62(3):439-44. doi: 10.1212/01.wnl.0000106943.40848.03. Neurology. 2004. PMID: 14872027

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. 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

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. Mol Genet Metab. 2004 Apr;81(4):295-9. doi: 10.1016/j.ymgme.2003.11.013. Mol Genet Metab. 2004. PMID: 15059617

7

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. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

8

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. 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

9

Rhizomelic chondrodysplasia punctata and cardiac pathology.

Huffnagel IC, Clur SA, Bams-Mengerink AM, Blom NA, Wanders RJ, Waterham HR, Poll-The BT. Huffnagel IC, et al. J Med Genet. 2013 Jul;50(7):419-24. doi: 10.1136/jmedgenet-2013-101536. Epub 2013 Apr 9. J Med Genet. 2013. PMID: 23572185

10

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. Bams-Mengerink AM, et al. Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174. Orphanet J Rare Dis. 2013. PMID: 24172221 Free PMC article.

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