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

[1]  A. Poulos,et al.  Identification of 3α,7α,12α-trihydroxy-5β-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease , 1985, Journal of Inherited Metabolic Disease.

[2]  P. Beaune,et al.  Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver , 1982, Journal of Inherited Metabolic Disease.

[3]  L. Monnens,et al.  Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: A disturbance in the metabolism of pipecolic acid , 1979, Journal of Inherited Metabolic Disease.

[4]  R. Goerlich,et al.  Erhöhte Phytansäurespiegel in Plasma und Leber bei einem Kleinkind mit unklarem Hirnschaden , 1974, Klinische Wochenschrift.

[5]  R. Wanders,et al.  Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins , 1986, European Journal of Pediatrics.

[6]  P. Borst,et al.  Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome , 1984, European Journal of Pediatrics.

[7]  A. Moser,et al.  Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders , 1985, The Journal of cell biology.

[8]  R. Wanders,et al.  The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts. , 1985, Biochimica et biophysica acta.

[9]  A. Poulos,et al.  Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? , 1984, Clinical genetics.

[10]  A. Poulos,et al.  Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease , 1984, Neurology.

[11]  S. Skrede,et al.  Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome. , 1984, Scandinavian journal of clinical and laboratory investigation.

[12]  R. Wanders,et al.  Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. , 1984, Biochemical and biophysical research communications.

[13]  H. Moser,et al.  Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. , 1982, The Johns Hopkins medical journal.

[14]  A. Poulos Diagnosis of Refsum's disease using [1‐14C]phytanic acid as substrate , 1981, Clinical genetics.

[15]  H. Moser,et al.  Adrenoleukodystrophy , 1998, Neurology.

[16]  H. Moser,et al.  Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts , 1980, Annals of neurology.

[17]  H. Moser,et al.  Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. , 1980, Birth defects original article series.

[18]  G. Janssen,et al.  C27 Bile Acids in Infants with Coprostanic Acidemia and Occurrence of a 3α,7α,12α‐Trihydroxy‐5β‐C29 Dicarboxylic Bile Acid as a Major Component in Their Serum , 1979 .

[19]  R. Hanson,et al.  Defects of bile acid synthesis in Zellweger's syndrome. , 1979, Science.

[20]  D. Danks,et al.  Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism. , 1975, The Journal of pediatrics.

[21]  I. Rapin,et al.  Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome , 1973, Science.

[22]  E. Eggermont,et al.  Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies. , 1972, Biochimica et biophysica acta.

[23]  D. Steinberg,et al.  Refsum's disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes. , 1969, The New England journal of medicine.

[24]  G. Milne,et al.  Refsum's Disease: Nature of the Enzyme Defect , 1967, Science.