Barth PG - Search Results

1

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

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

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

van Geel BM, Assies J, Wanders RJ, Barth PG. van Geel BM, et al. Among authors: barth pg. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):4-14. doi: 10.1136/jnnp.63.1.4. J Neurol Neurosurg Psychiatry. 1997. PMID: 9221959 Free PMC article. Review.

4

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.

5

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

6

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

7

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

8

Clinical and biochemical characteristics of peroxisomal disorders: an update.

Wanders RJ, Barth PG, Schutgens RB, Tager JM. Wanders RJ, et al. Among authors: barth pg. Eur J Pediatr. 1994;153(7 Suppl 1):S44-8. doi: 10.1007/BF02138777. Eur J Pediatr. 1994. PMID: 7957386 Review.

9

Delay in diagnosis of X-linked adrenoleukodystrophy.

van Geel BM, Assies J, Haverkort EB, Barth PG, Wanders RJ, Schutgens RB, Keyser A, Zwetsloot CP. van Geel BM, et al. Among authors: barth pg. Clin Neurol Neurosurg. 1993 Jun;95(2):115-20. doi: 10.1016/0303-8467(93)90004-z. Clin Neurol Neurosurg. 1993. PMID: 8344008

10

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.

Kemp S, Mooyer PA, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJ. Kemp S, et al. Among authors: barth pg. J Inherit Metab Dis. 1996;19(5):667-74. doi: 10.1007/BF01799844. J Inherit Metab Dis. 1996. PMID: 8892025

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