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Article

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.

Journal of neurochemistry - 1 Mar 2002

Wierzbicki Anthony S, Lloyd Matthew D, Schofield Christopher J, Feher Michael D, Gibberd F Brian

Abstract excerpt

Refsum's disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, anosmia, deafness, sensory neuropathy, ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues. The transport and biochemical pathways of phytanic acid metabolism have recently...

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PMID: 11948235
DOI: 10.1046/j.0022-3042.2002.00766.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.PMID 11948235Read ↗

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.Semantic proximity Read ↗

Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.Semantic proximity Read ↗

Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.Semantic proximity Read ↗

Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.Semantic proximity Read ↗

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.Semantic proximity Read ↗

Identification of PEX7 as the second gene involved in Refsum disease.Semantic proximity Read ↗

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).Semantic proximity Read ↗

Osteoarticular changes in Refsum’s disease: a case reportSemantic proximity Read ↗

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Semantic proximity Read ↗

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.Semantic proximity Read ↗

Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).Semantic proximity Read ↗

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctataSemantic proximity Read ↗

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