Author:
Panteliadis Christos P.,Hagel Christian
Publisher
Springer International Publishing
Reference24 articles.
1. Quinlan CD, Martin EA. Refsum’s syndrome: report of 3 cases. J Neurol Psychiat. 1970;33:817–23.
2. Refsum S. Heredoataxia hemeralopica polyneuritiformis - et tidligere ikke beskrevet familiært syndrom? En foreløbig meddelelse. Nordisk Medicin,1945;28:2682–6.
3. Refsum S. Heredopathia atactica polyneuritiformis. Acta Psychiat 1946 (Kbh.); Suppl: 38.
4. Jansen GA, Hogenhout EM, Ferdinandusse S, et al. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum’s disease. Hum Mol Genet. 2000;9(1):195–200.
5. Jansen GA, Ferdinandusse S, Hogenhout EM, et al. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. Adv Exp Med Biol. 1999;466:371–6.