Barth PG - 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. 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

2

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. Barth PG, et al. Am J Med Genet A. 2004 May 1;126A(4):349-54. doi: 10.1002/ajmg.a.20660. Am J Med Genet A. 2004. PMID: 15098233 Review.

3

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G. Walter C, et al. Among authors: barth pg. Am J Hum Genet. 2001 Jul;69(1):35-48. doi: 10.1086/321265. Epub 2001 Jun 1. Am J Hum Genet. 2001. PMID: 11389485 Free PMC article.

4

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

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

6

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

7

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT. van Dijk T, et al. Am J Med Genet A. 2017 Jan;173(1):207-212. doi: 10.1002/ajmg.a.37962. Epub 2016 Nov 9. Am J Med Genet A. 2017. PMID: 27862915 Review.

8

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.

9

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

10

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.

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