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

Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome

1973 • 777 citations

Adrenoleukodystrophy

1981 • 383 citations

Cerebro-hepato-renal syndrome of Zellweger

1975 • 246 citations

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1980 • 199 citations

Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

1984 • 192 citations

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

1982 • 179 citations

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

1982 • 177 citations

Defects of Bile Acid Synthesis in Zellweger's Syndrome

1979 • 171 citations

Refsum's Disease: Nature of the Enzyme Defect

1967 • 134 citations

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

1984 • 133 citations

Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies

1972 • 127 citations

C27 Bile Acids in Infants with Coprostanic Acidemia and Occurrence of a 3alpha,7alpha,12alpha-Trihydroxy-5beta-C29 Dicarboxylic Bile Acid as a Major Component in Their Serum

1979 • 90 citations

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome

1984 • 89 citations

Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders.

1985 • 84 citations

Biochemical studies in the cerebro‐hepato‐renal syndrome of Zellweger: A disturbance in the metabolism of pipecolic acid

1979 • 77 citations

The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts

1985 • 77 citations

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

1984 • 64 citations

Refsum's Disease: Defective Oxidation of Phytanic Acid in Tissue Cultures Derived from Homozygotes and Heterozygotes

1969 • 60 citations

Plasma and skin fibroblast C ₂₆ fatty acids in infantile Refsum's disease

1984 • 54 citations

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins

1986 • 46 citations

Diagnosis of Refsum's disease using [1‐¹⁴C]phytanic acid as substrate

1981 • 34 citations

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

1984 • 31 citations

Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease.

1980 • 21 citations

Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology

1974 • 20 citations