References
- Steinberg D. Refsum disease. The metabolic basis of inherited disease6th edn, CR Scriver, AL Beaudet, WS Sly, D Valle. McGraw Hill, New York, 1533–50
- Singh I, Pahan K, Dhaunsi GS, Lazo O, Ozand P. Phytanic acid alpha-oxidation. Differential subcel-lular localization in rat and human tissues and its inhibition by nycodenz. J Biol Chem 1989–1993; 268: 9972–9
- Wanders RJ, Van Roemund CW. Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts. Biochim Biophys Acta 1993; 1167: 345–50
- Huang S, van Veldhoven PP, Vanhoutte F, Parmentier G, Eyssen HJ, Mannaerts GP. Alpha-oxidation of 3-methyl-substituted fatty acids in rat liver. Arch Biochem Biophys 1992; 296: 214–223
- ten Brink HJ, Schor DS, Kok RM, Poll-The BT, Wanders RJ, Jakobs C. Phytanic acid α-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders. J Lipid Res 1992; 33: 1449–57
- Poulos A, Sharp P, Fellenberg AJ, Johnsen DW. Accumulation of pristanic acid (2,6,10,14 tetra-methylpentadecanoic acid) in the plasma of patients with generalized peroxisomal dysfunction. Eur J Pediatr 1988; 147: 143–7
- Wanders RJA, ten Brink HJ, van Roermund CWT, Schutgens RBH, Tager JM, Jakobs C. Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome. Biochem Biophys Res Commun 1990; 172: 490–5
- Poulos A, Sharp P, Singh H, Johnson DW, Carey WF, Easton C. Formic acid is a product of the alpha-oxidation of fatty acids by human skin fibroblasts: deficiency of formic acid production in peroxisome-deficient fibroblasts. Biochem J 1993; 292: 457–61
- Mihalik SJ, Soliman TM, Day RF, Watkins PA. Involvement of both peroxisomes and mitochondria in the α-oxidation of phytanic acid. Prog Clin Biol Res 1992; 375: 239–244
- Kase BF, Ölund J, Sisfontes L. Separation of phytanic and pristanic acid by high-pressure liquid chromatography: application of the method. Analyt Biochem 1991; 196: 95–8
- Stokke O, Skrede S, Ek J, Björkhem I. Refsum's disease, adrenoleukodystrophy, and the Zellweger syndrome. Scand J Clin Lab Invest 1984; 44: 463–4
- Ek J, Kase BF, Reith A, Björkhem I, Pedersen JI. Peroxisomal dysfunction in a baby with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. J Pediatr 1986; 108: 19–24
- Skjeldal OH, Stokke O, Norseth J, Lie SO. Phytanic acid oxidase activity in cultured skin fibroblasts: diagnostic usefulness and limitations. Scand J Clin Lab Invest 1986; 46: 283–7
- Wanders RJA, Smit W, Heymans HSA, et al. Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome. Clin Chim Acta 1987; 166: 45–56
- Harris HM, Applegarth DA, Clarke LA, Wong J. Phytanic acid, pristanic acid, and very-longchain fatty acid methyl esters measured simultaneously by capillary gas chromatography. Clin Chem 1989; 35: 703–4
- Mize CE, Herndon JH, Blass JP, Milne GWA, Follansbee C, Laudat P, et al. Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease. J Clin Invest 1969; 48: 1033–40
- Gustafsson J. Biosynthesis of cholic acid in rat liver: formation of cholic acid from 3α,7α,12α-trihydroxy- and 3α, 7α, 12α,24-tetrahydroxy-5β-cholestanoic acids. Lipids 1980; 15: 113–21
- Singh H, Usher S, Johnson D, Poulos A. A comparative study of straight chain and branched chain fatty acid oxidation in skin fibroblasts from patients with peroxisomal disorders. J Lipid Res 1990; 31: 217–25