Inborn errors of bile acid metabolism (Q36816770)

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scientific article published on January 1991

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Language	Label	Description	Also known as
English	Inborn errors of bile acid metabolism	scientific article published on January 1991

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

review article

1 reference

stated in

Europe PubMed Central

title

Inborn errors of bile acid metabolism. (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

author name string

Clayton PT

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

publication date

1 January 1991

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

published in

Journal of Inherited Metabolic Disease

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stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

volume

14

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stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

issue

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

page(s)

478-496

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stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

cites work

Subcellular distribution and characteristics of trihydroxycoprostanoyl-CoA synthetase in rat liver

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1007%2FBF01797919

retrieved

21 January 2018

Occurrence of bile alcohols in the bile of a patient with cholestasis

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal bifunctional enzyme deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of carriers of cerebrotendinous xanthomatosis

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Capillary gas chromatographic determinations of urinary bile acids and bile alcohols in CTX patients proving the ineffectivity of ursodeoxycholic acid treatment

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum bile acid profiles in cerebrotendinous xanthomatosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of bile acid synthesis. I. Effects of conjugated ursodeoxycholate and cholate on bile acid synthesis in chronic bile fistula rat.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Oxo-delta 4 bile acids in liver disease

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of some hydroxycholesterols in human serum samples

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

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inferred from PubMed ID database lookup

Fetal and neonatal bile acid synthesis and metabolism — Clinical implications

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary bile acid malabsorption: defective in vitro ileal active bile acid transport

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subcellular localization of 3 alpha, 7 alpha-dihydroxy- and 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoyl-coenzyme A ligase(s) in rat liver

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective bile acid amidation: predicted features of a new inborn error of metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urinary and fecal keto bile acids in liver cirrhosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refractory infantile diarrhea due to primary bile acid malabsorption

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stereospecific formation of (24E)-3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholest-24-en-26-oic acid and (24R,25S)-3 alpha,7 alpha,12 alpha,24-tetrahydroxy-5 beta-cholestan-26-oic acid from either (25R)- or (25S)-3 alpha,7 alpha,12 alpha-trihydrox

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Importance of peroxisomes in the formation of chenodeoxycholic acid in human liver. Metabolism of 3 alpha,7 alpha-dihydroxy-5 beta-cholestanoic acid in Zellweger syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Metabolic Sequence for the Occurrence of an Anomalous Bile Acid, 12-Ketochenodeoxycholic Acid, Found in the Bile of Hepatobiliary Diseased Patients

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Di- and trihydroxycholestanoic acidaemia with hepatic failure

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibition of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acid oxidation and of bile acid secretion in rat liver by fatty acids

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders: a newly recognised group of genetic diseases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects of Bile Acid Synthesis in Zellweger's Syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stero-bile acids and bile alcohols. 103. Isolation of 3-alpha, 7-alpha-dihydroxy-12-oxo-5-beta-cholanoic acid from the bile of patients with hepatobiliary diseases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Di- and trihydroxycholestanaemia in twin sisters

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders in neurology

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simplified gas-liquid chromatographic methods for the estimation of non-sulphated plasma bile acids

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1749214

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First prenatal diagnosis of acyl-CoA oxidase deficiency

1 reference

stated in

COCI

retrieved

9 November 2024

reference URL

https://opencitations.net/index/api/v1/references/10.1007/BF01797919

Identifiers

DOI

10.1007/BF01797919

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

PubMed publication ID

1749214

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1749214

retrieved

16 August 2017

 

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