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Genetic testing for Refsum disease Cover

References

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  2. 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
  3. 3. Refsum S. Heredopathica atactica polyneuritiformis: a familial syndrome not hitherto described. Acta Psychiatr Scand Suppl. 1946;38:1-303.
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  5. 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.
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Language: English
Page range: 89 - 91
Published on: Oct 27, 2017
Published by: European Biotechnology Thematic Network Association
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2017 Andi Abeshi, Alessandra Zulian, Tommaso Beccari, Munis Dundar, Fabiana D’Esposito, Matteo Bertelli, published by European Biotechnology Thematic Network Association
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.