Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells

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

1973 • 777 citations

The Cerebrohepatorenal (Zellweger) Syndrome

1984 • 268 citations

Cerebro-hepato-renal syndrome of Zellweger

1975 • 246 citations

Defects of Bile Acid Synthesis in Zellweger's Syndrome

1979 • 171 citations

An improvement of the Coomassie Blue dye binding method allowing an equal sensitivity to various proteins: application to cerebrospinal fluid

1982 • 163 citations

Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy

1986 • 142 citations

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

1984 • 89 citations

The Cerebrohepatorenal (Zellweger) Syndrome: An Improved Method for the Biochemical Diagnosis and its Potential Value for Prenatal Detection

1985 • 83 citations

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

1979 • 77 citations

Medium- and Long-Chain Dicarboxylic Aciduria in Patients with Zellweger Syndrome and Neonatal Adrenoleukodystrophy

1986 • 66 citations

Fetal cerebrohepatorenal (Zellweger) syndrome: Dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses

1985 • 62 citations

The cerebro-hepato-renal (Zellweger) syndrome: Lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma

1985 • 50 citations

Capillary gas-liquid chromatographic-mass spectrometric measurement of very long chain (C22 to C26) fatty acids in microliter samples of plasma.

1985 • 44 citations

Urinary excretion of dicarboxylic acids from patients with the zellweger syndrome Importance of peroxisomes in β-oxidation of dicarboxylic acids

1984 • 43 citations

PEROXISOMES AND HUMAN METABOLIC DISEASES: THE CEREBROHEPATORENAL SYNDROME (CHRS), CEREBROTENDINOUS XANTHOMATOSIS, AND SCHILDER'S DISEASE (ADRENOLEUKODYSTROPHY)*

1982 • 34 citations

The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

1985 • 26 citations

Unsuccessful Attempts to Induce Peroxisomes in Two Cases of Zellweger Disease by Treatment with Clofibrate

1985 • 22 citations

The prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger

1985 • 22 citations

Prenatal diagnosis of zellweger's syndrome by chorionic villus sampling‐and a caveat

1986 • 22 citations

L-pipecolaturia in Zellweger syndrome

1986 • 16 citations

87 FETAL CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME

1984 • 4 citations