A sibship with a mild variant of Zellweger syndrome

[1]  H. Moser,et al.  Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction , 1986, 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. 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.

[5]  R. Wanders,et al.  Peroxisomal disorders: A newly recognised group of genetic diseases , 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]  R. Wanders,et al.  Complementation Analysis of Peroxisomal Diseases by Somatic Cell Fusion , 1987 .

[8]  E. Zackai,et al.  Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. , 1986, American journal of medical genetics.

[9]  H. Moser,et al.  Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy , 1984, Annals of neurology.

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

[11]  J. I. Pedersen,et al.  Mechanism of peroxisomal 24-hydroxylation of 3α,7α,12α-trihydroxy-5β-cholestanoic acid in rat liver , 1984 .

[12]  R. Wanders,et al.  Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. , 1984, Biochemical and biophysical research communications.

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

[14]  H. Moser,et al.  The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. , 1984, The New England journal of medicine.

[15]  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.

[16]  J. I. Pedersen,et al.  Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes. , 1983, Journal of lipid research.

[17]  J. I. Pedersen,et al.  Formation of cholic acid from 3a,7a, 12a-trihydroxy- 5P-cholestanoic acid by rat liver peroxisomes , 1983 .

[18]  A. Hajra,et al.  GLYCEROLIPID BIOSYNTHESIS IN PEROXISOMES VIA THE ACYL DIHYDROXYACETONE PHOSPHATE PATHWAY * , 1982, Annals of the New York Academy of Sciences.

[19]  D. Brahams.  No Claim in English Law for Wrongful Birth , 1982, The Lancet.

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

[21]  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 .

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

[23]  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.

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

[25]  J. Avigan,et al.  Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. , 1966, Lancet.