Myopathy in an infant with a fatal peroxisomal disorder

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

1973 • 777 citations

Adrenoleukodystrophy

1981 • 383 citations

The Cerebrohepatorenal (Zellweger) Syndrome

1984 • 268 citations

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

1984 • 256 citations

Adrenoleukodystrophy: Impaired Oxidation of Very Long Chain Fatty Acids in White Blood Cells, Cultured Skin Fibroblasts, and Amniocytes

1984 • 223 citations

Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

1986 • 216 citations

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

1984 • 192 citations

Deficiency of Enzymes Catalyzing the Biosynthesis of Glycerol-Ether Lipids in Zellweger Syndrome

1984 • 186 citations

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

1982 • 179 citations

Adrenoleukodystrophy: Impaired oxidation of long chain fatty acids in cultured skin fibroblasts and adrenal cortex

1981 • 130 citations

Adrenoleukodystrophy

1978 • 109 citations

Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.

1982 • 89 citations

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

1984 • 89 citations

Properties of guinea pig liver peroxisomal dihydroxyacetone phosphate acyltransferase.

1980 • 79 citations

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

1977 • 76 citations

Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings

1981 • 70 citations

New form of adrenoleukodystrophy

1981 • 64 citations

Very long chain fatty acid oxidation in rat liver

1981 • 61 citations

Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry.

1980 • 45 citations

The determination of pipecolic acid: method and results of hospital survey

1983 • 37 citations

Brainstem auditory evoked response in adrenoleukodystrophy

1979 • 19 citations

Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families.

1975 • 10 citations

Deficiency of antithrombin III in children with hemolytic-uremic syndrome

1984 • 10 citations

EFFECT OF CORTIN ON INTRA-OCULAR TENSION IN GLAUCOMA

1935 • 7 citations

Neonatal Adrenoleukodystrophy

2005 • 1 citations