Refsum

The Refsum bookbinding firm was responsible for binding the "Norwegian" diplomas until 1986, when the bookbinding firm of Kjell-Roger

The Nobel Prize Diplomas 2010

Helge Refsum was a deputy member of the Norwegian Nobel

Bio - Helge Refsum 2010

Enzymological and molecular basis of classical Refsum disease.

PLoS ONE Alerts: New Articles Sungsam Gong et al. 2010

Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, et al. (1997) Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

PLoS ONE Alerts: New Articles Sungsam Gong et al. 2010

Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, et al. (1997) Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

PLoS ONE Alerts: New Articles Sungsam Gong et al. 2010

Figure 7A, there are 17 sequence variants annotated by UniProt, one of which (VAR_050528) is annotated as polymorphic (SVP) and the rest are disease-related variants (SVD) responsible for Refsum disease (RD) [35] - [37]

PLoS ONE Alerts: New Articles Sungsam Gong et al. 2010

A.; Khan, M.; Pai, S.G.; Barbosa, E.; Singh, I.: Restoration of phyta - nic acid oxidation in Refsum disease fibroblasts from patients with muta - tions in the phytanoyl-CoA hydroxylase gene.

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Gould, S.J.: Identification of PAHX, a Refsum disease gene.

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Enzymological and molecular basis of classical Refsum disease.

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Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PHYH), the first enzyme of the peroxisomal α-oxidation system, resulting in the accumulation of the branched-chain fatty acid phytanic acid.

Proceedings of the National Academy of Sciences current issue S. Ferdinandusse 2008