Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography

A Biochemical Abnormality in Cerebrotendinous Xanthomatosis IMPAIRMENT OF BILE ACID BIOSYNTHESIS ASSOCIATED WITH INCOMPLETE DEGRADATION OF THE CHOLESTEROL SIDE CHAIN

1974 • 225 citations

Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.

1980 • 221 citations

Cholestanol Deposition in Cerebrotendinous Xanthomatosis

1971 • 216 citations

The Metabolism of Cholestanol, Cholesterol, and Bile Acids in Cerebrotendinous Xanthomatosis

1973 • 172 citations

Cerebrotendinous Xanthomatosis

1968 • 162 citations

Increased formation of ursodeoxycholic acid in patients treated with chenodeoxycholic acid.

1974 • 146 citations

A 25-hydroxylation pathway of cholic acid biosynthesis in man and rat.

1976 • 118 citations

Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous Xanthomatosis

1975 • 105 citations

Cholic Acid Biosynthesis

1979 • 103 citations

Hepatic Synthesis of Bile Acids

1972 • 101 citations

Identification of pentahydroxy bile alcohols in cerebrotendinous xanthomatosis: characterization of 5β-cholestane-3α, 7α, 12α, 24xi, 25-pentol and 5β-cholestane-3α, 7α, 12α, 23xi, 25-pentol

1975 • 88 citations

Bile alcohol metabolism in man. Conversion of 5beta-cholestane-3alpha, 7alpha,12alpha, 25-tetrol to cholic acid.

1975 • 74 citations

Assay of intermediates in bile acid biosynthesis using isotope dilution–mass spectrometry: hepatic levels in the normal state and in cerebrotendinous xanthomatosis.

1981 • 70 citations

Spinocerebellar degeneration

1979 • 67 citations

Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis

1980 • 65 citations

Bile alcohol glucuronides in urine. identification of 27-nor-5β-cholestane-3α,7α,12α,24ξ,25ξ-pentol in man

1981 • 50 citations

Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

1982 • 50 citations

Gas-liquid chromatography-mass spectrometry of trimethylsilyl ethers of bile alcohols.

1978 • 49 citations

Hepatic synthesis of bile acids. Biochemical steps and mechanisms of rate control

1972 • 36 citations

Biosynthesis of 5α-Cholestan-3β-ol in Cerebrotendinous Xanthomatosis

1972 • 35 citations

Direct quantitation of cholestanol in plasma by gas-liquid chromatography.

1976 • 33 citations

Identification of (23S)-5β-cholestane-3α,7α,12α,23,25-pentol in cerebrotendinous xanthomatosis1,2

1976 • 29 citations

Identification of 5β-cholestane-3α,7α,12α,23β-tetrol, 5β-cholestane-3α,7α,12α,24α-tetrol, and 5β-cholestane-3 α,7α,12α,24β-tetrol in cerebrotendinous xanthomatosis

1978 • 27 citations

Metabolism of potential precursors of chenodeoxycholic acid in cerebrotendinous xanthomatosis (CTX).

1979 • 15 citations

From the 10th scientific session of the American Heart Association.

1998 • 9 citations

Cited By (0)

Loading...