(Q37828091)

23 August 2017

1 reference

title

Disorders of bile acid synthesis (English)

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23 August 2017

Peter Theodore Clayton

series ordinal

1

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23 August 2017

13 January 2011

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Journal of Inherited Metabolic Disease

23 August 2017

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23 August 2017

34

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23 August 2017

3

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23 August 2017

593-604

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9259-3

23 August 2017

0 references

cites work

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Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

21 January 2018

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Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study.

21 January 2018

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Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat

21 January 2018

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White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

21 January 2018

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Do oxysterols control cholesterol homeostasis?

21 January 2018

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Are side-chain oxidized oxysterols regulators also in vivo?

21 January 2018

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Genes involved in initial steps of bile acid synthesis

21 January 2018

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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

21 January 2018

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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

21 January 2018

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Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease

21 January 2018

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

21 January 2018

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Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

21 January 2018

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Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

21 January 2018

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Transcriptional regulation of metabolism

21 January 2018

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Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency

21 January 2018

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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

21 January 2018

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SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

21 January 2018

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Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.

21 January 2018

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Analytical strategies for characterization of bile acid and oxysterol metabolomes.

21 January 2018

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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

21 January 2018

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Early changes of hepatitis B virus quasispecies during lamivudine treatment and the correlation with antiviral efficacy.

21 January 2018

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The enzymes, regulation, and genetics of bile acid synthesis

21 January 2018

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

21 January 2018

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Regulation of fibroblast mitochondrial 27-hydroxycholesterol production by active plasma membrane cholesterol

21 January 2018

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Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

21 January 2018

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Human Delta4-3-oxosteroid 5beta-reductase (AKR1D1) deficiency and steroid metabolism

21 January 2018

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Fifty years of advances in bile acid synthesis and metabolism

21 January 2018

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Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

21 January 2018

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Identification and characterization of a mouse oxysterol 7alpha-hydroxylase cDNA.

21 January 2018

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The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis

21 January 2018

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Bile acids and their signaling pathways: eclectic regulators of diverse cellular functions.

21 January 2018

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

21 January 2018

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Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9259-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9259-3

Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency

21 January 2018

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Bile acids as regulators of hepatic lipid and glucose metabolism

21 January 2018

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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

21 January 2018

1 reference

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Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene

21 January 2018

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Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

21 January 2018

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Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy.

21 January 2018

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Cholestenoic Acid Is a Naturally Occurring Ligand for Liver X Receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9259-3

Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment

21 January 2018

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12 December 2020

Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?

1 reference

12 December 2020

3-Oxo-delta 4 bile acids in liver disease

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12 December 2020

Cholestenoic Acid Is a Naturally Occurring Ligand for Liver X Receptor α

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12 December 2020

Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis

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12 December 2020

Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation

1 reference

12 December 2020

Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency

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12 December 2020

Failure in the treatment of long-standing osteoporosis in cerebrotendinous xanthomatosis

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12 December 2020

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

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12 December 2020

Inborn errors of bile acid metabolism

1 reference

12 December 2020

Elimination of cholesterol as cholestenoic acid in human lung by sterol 27-hydroxylase: evidence that most of this steroid in the circulation is of pulmonary origin.

1 reference

12 December 2020

10.1007/S10545-010-9259-3

Identifiers

DOI

1 reference

23 August 2017

1 reference

PubMed ID

21229319