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Items: 1 to 20 of 63

1.

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR.

Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388.

PMID:
21031596
2.

Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.

Paker AM, Sunness JS, Brereton NH, Speedie LJ, Albanna L, Dharmaraj S, Moser AB, Jones RO, Raymond GV.

Neurology. 2010 Aug 31;75(9):826-30. doi: 10.1212/WNL.0b013e3181f07061.

3.

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum.

Steinberg SJ, Raymond GV, Braverman NE, Moser AB.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Dec 12 [updated 2012 May 10].

4.

Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester.

Noguer MT, Martinez M.

Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2277-85. doi: 10.1167/iovs.09-4020. Epub 2009 Nov 20.

PMID:
19933185
5.

A lethal defect of mitochondrial and peroxisomal fission.

Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV.

N Engl J Med. 2007 Apr 26;356(17):1736-41.

6.

Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

Maxwell MA, Leane PB, Paton BC, Crane DI.

Hum Mutat. 2005 Sep;26(3):279.

PMID:
16088892
7.

Molecular and neurologic findings of peroxisome biogenesis disorders.

Shimozawa N, Nagase T, Takemoto Y, Funato M, Kondo N, Suzuki Y.

J Child Neurol. 2005 Apr;20(4):326-9. Review.

PMID:
15921234
8.

An overview of peroxisomal biogenesis disorders.

Oglesbee D.

Mol Genet Metab. 2005 Apr;84(4):299-301. Review. No abstract available.

PMID:
15875330
9.

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D.

Am J Hum Genet. 2005 Jun;76(6):987-1007. Epub 2005 Apr 27.

10.

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.

Wanders RJ, Waterham HR.

Clin Genet. 2005 Feb;67(2):107-33. Review.

PMID:
15679822
12.

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N.

Mol Genet Metab. 2004 Nov;83(3):252-63.

PMID:
15542397
13.

PEX1 deficiency presenting as Leber congenital amaurosis.

Michelakakis HM, Zafeiriou DI, Moraitou MS, Gootjes J, Wanders RJ.

Pediatr Neurol. 2004 Aug;31(2):146-9.

PMID:
15301838
14.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.

Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schütz M, Marquardt T, Smeitink JA, Waterham HR, Wanders RJ.

Hum Mutat. 2004 Aug;24(2):130-9.

PMID:
15241794
15.

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.

AJNR Am J Neuroradiol. 2004 Jun-Jul;25(6):1022-7.

16.

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJ, Kondo N.

Hum Mutat. 2004 Jun;23(6):552-8.

PMID:
15146459
17.

Metabolic and molecular basis of peroxisomal disorders: a review.

Wanders RJ.

Am J Med Genet A. 2004 May 1;126A(4):355-75. Review.

PMID:
15098234
18.

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.

Am J Med Genet A. 2004 May 1;126A(4):333-8.

PMID:
15098231
19.

Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder.

Lyons CJ, Castano G, McCormick AQ, Applegarth D.

Br J Ophthalmol. 2004 Feb;88(2):191-2.

20.

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.

Gootjes J, Mandel H, Mooijer PA, Roels F, Waterham HR, Wanders RJ.

Adv Exp Med Biol. 2003;544:107-11. No abstract available.

PMID:
14713221

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