Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction

Author:

Poll-The B. T.,Saudubray J. M.,Ogier H.,Schutgens R. B. H.,Wanders R. J. A.,Schrakamp G.,van den Bosch H.,Trijbels J. M. F.,Poulos A.,Moser H. W.,van Eldere J.,Eyssen H. J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Arias, J. A., Moser, A. B. and Goldfischer, S. L. Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders.J. Cell Biol. 100 (1985) 1789–1792

2. Boltshauser, E., Spycher, M. A., Steinmann, B., Briner, J., Isler, W., Kuster, T., Poulos, A. and Pollard, A. C. Infantile phytanic acid storage disease: a variant of Refsum's disease?Eur. J. Pediatr. 139 (1982) 317

3. Brown, F. R., McAdams, A. J., Cummins, J. W., Konkol, R., Singh, I., Moser, A. B. and Moser, H. W. Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.Johns Hopkins Med. J. 151 (1982) 344–351

4. Danks, D. M., Tippett, P., Adams, C. and Campbell, P. Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, liver lesion and a fault in pipecolic acid metabolism.J. Pediatr. 86 (1975) 382–387

5. Eyssen, H., Parmentier, G., Compernolle, F., Boon, J. and Eggermont, E. Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies.Biochim. Biophys. Acta 273 (1972) 212–221

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