Concepedia

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Sacha Ferdinandusse, Peter T. Clayton, John T. Allen, Brendan McLean, P. Vreken, Hans R. Waterham, Ronald J. A. Wanders

Nature Genetics · 2000 · 255 citations · 19 references

DOI

Concepts

References

19

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse et al. · Nature Genetics · 1997 · 306 citations

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Identification of PAHX, a Refsum disease gene

Stephanie J. Mihalik, James C. Morrell, Do Kim et al. · Nature Genetics · 1997 · 247 citations

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Comparison of the binding affinities of acyl-CoA-binding protein and fatty-acid-binding protein for long-chain acyl-CoA esters

Jan T. Rasmussen, Torsten Börchers, J Knudsen · Biochemical Journal · 1990 · 195 citations · Full text

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Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein

Lodewijk IJlst, R. J. A. Wanders, S. Ushikubo et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1994 · 159 citations

, , +17

Purification and Characterization of an alpha-Methylacyl-CoA Racemase from Human Liver

Werner Schmitz, Christine Albers, Ralph Fingerhut et al. · European Journal of Biochemistry · 1995 · 124 citations

, , +5