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Items: 5

1.

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Menon GK, Orsó E, Aslanidis C, Crumrine D, Schmitz G, Elias PM.

Arch Dermatol Res. 2014 Oct;306(8):731-7. doi: 10.1007/s00403-014-1478-2. Epub 2014 Jun 12.

2.

Phenotype of adult Refsum disease due to a defect in peroxin 7.

Horn MA, van den Brink DM, Wanders RJ, Duran M, Poll-The BT, Tallaksen CM, Stokke OH, Moser H, Skjeldal OH.

Neurology. 2007 Feb 27;68(9):698-700.

PMID:
17325280
4.

Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.

Ferdinandusse S, Rusch H, van Lint AE, Dacremont G, Wanders RJ, Vreken P.

J Lipid Res. 2002 Mar;43(3):438-44.

5.

Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.

Jansen GA, Wanders RJ, Watkins PA, Mihalik SJ.

N Engl J Med. 1997 Jul 10;337(2):133-4. No abstract available.

PMID:
9221344

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