Refsum Disease Presenting with a Late-Onset Leukodystrophy
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2014_355
Reference7 articles.
1. Jansen GA, Waterham HR, Wanders RJ (2004) Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat 23(3):209–218
2. Rüether K, Baldwin E, Casteels M et al (2010) Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. Surv Ophthalmol 55(6):531–538
3. Van den Brink DM, Brites P, Haasjes J et al (2003) Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 72(2):471–477
4. Wanders RJ, Komen JC (2007) Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. Biochem Soc Trans 35(Pt 5):865–869
5. Weinstein R (1999) Phytanic acid storage disease (Refsum’s disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apher 14(4):181–184
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