[1. Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit H. Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation. J Neurol Sci. 1987 Jan;77(1):87-96. PubMed PMID: 2433405.10.1016/0022-510X(87)90209-7]Search in Google Scholar
[2. Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB. Refsum’s disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem. 2002 Mar;80(5):727-35. PubMed PMID: 11948235.10.1046/j.0022-3042.2002.00766.x11948235]Search in Google Scholar
[3. Refsum S. Heredopathica atactica polyneuritiformis: a familial syndrome not hitherto described. Acta Psychiatr Scand Suppl. 1946;38:1-303.]Search in Google Scholar
[4. Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet. 2000 Feb;24(2):188-91. PubMed PMID: 10655068.10.1038/7286110655068]Search in Google Scholar
[5. Wanders RJA, Waterham HR, Leroy BP. Refsum Disease. n: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews® Seattle (WA): 1993-2017.]Search in Google Scholar
[6. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep. 2009 Jun 12;58(RR-6):1-37. PubMed PMID: 19521335.]Search in Google Scholar
[7. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10. PubMed MID: 22944025. Epub 2012/09/01.10.1016/j.ophtha.2012.05.04722944025]Search in Google Scholar