3-Oxo-delta 4 bile acids in liver disease.

PubWeight™: 1.24‹?› | Rank: Top 10%

🔗 View Article (PMID 2897546)

Published in Lancet on June 04, 1988

Authors

P T Clayton, E Patel, A M Lawson, R A Carruthers, M S Tanner, B Strandvik, B Egestad, J Sjövall

Articles citing this

Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. J Clin Invest (1988) 1.62

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut (2003) 1.24

Disorders of bile acid synthesis. J Inherit Metab Dis (2011) 1.18

Mechanisms of disease: Inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol (2008) 1.13

Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. J Biol Chem (2010) 1.01

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid. Arch Dis Child (1990) 0.90

Developmental pattern of 3-oxo-delta 4 bile acids in neonatal bile acid metabolism. Arch Dis Child Fetal Neonatal Ed (1997) 0.88

Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid. Gut (1996) 0.87

Differential diagnosis in patients with suspected bile acid synthesis defects. World J Gastroenterol (2012) 0.86

Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis. Eur J Pediatr (1998) 0.84

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. J Clin Invest (1990) 0.83

An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Arch Dis Child (1999) 0.81

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. Orphanet J Rare Dis (2013) 0.81

Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment. J Inherit Metab Dis (2012) 0.79

In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency. Biochemistry (2015) 0.78

Differential Feedback Regulation of Δ4-3-Oxosteroid 5β-Reductase Expression by Bile Acids. PLoS One (2017) 0.75

Articles by these authors

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet (1992) 4.23

Adhesion of Plasmodium falciparum-infected erythrocytes to hyaluronic acid in placental malaria. Nat Med (2000) 3.40

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet (1998) 3.33

Conservation. Averting lemur extinctions amid Madagascar's political crisis. Science (2014) 3.11

Central nervous and cardiovascular effects of i.v. infusions of ropivacaine, bupivacaine and placebo in volunteers. Br J Anaesth (1997) 3.04

Docosahexaenoic acid, a ligand for the retinoid X receptor in mouse brain. Science (2000) 2.90

Retracted Oligosaccharide ligands for NKR-P1 protein activate NK cells and cytotoxicity. Nature (1994) 2.43

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis (2006) 1.98

Characterization and measurement of dehydroepiandrosterone sulfate in rat brain. Proc Natl Acad Sci U S A (1981) 1.78

The primary structure of alcohol dehydrogenase from Drosophila lebanonensis. Extensive variation within insect 'short-chain' alcohol dehydrogenase lacking zinc. Eur J Biochem (1989) 1.70

D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis (1980) 1.69

Alström syndrome. Report of 22 cases and literature review. Ophthalmology (1998) 1.67

Prospective study of mycobacterial infections in patients with cystic fibrosis. Thorax (1990) 1.65

Prevalence of liver disease in cystic fibrosis. Arch Dis Child (1991) 1.61

Increased bronchial chloride concentration in cystic fibrosis. Scand J Clin Lab Invest (1989) 1.60

Analysis of metabolic profiles of bile acids in urine using a lipophilic anion exchanger and computerized gas-liquid chromatorgaphy-mass spectrometry. J Lipid Res (1977) 1.60

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet (2000) 1.58

Mass spectrometry of nucleic acid components. Trimethylsilyl derivatives of nucleotides, nucleosides, and bases. J Am Chem Soc (1968) 1.58

Predictors of deterioration of lung function in cystic fibrosis. Pediatr Pulmonol (2002) 1.58

Nodular transformation of the liver associated with portal and pulmonary arterial hypertension. Gastroenterology (1993) 1.57

Pregnenolone and its sulfate ester in the rat brain. Brain Res (1983) 1.57

Pharmacokinetics of bacampicillin compared with those of ampicillin, pivampicillin, and amoxycillin. Antimicrob Agents Chemother (1978) 1.56

Allergic bronchopulmonary aspergillosis in cystic fibrosis. A European epidemiological study. Epidemiologic Registry of Cystic Fibrosis. Eur Respir J (2000) 1.54

Increased hepatic copper concentration in Indian childhood cirrhosis. Lancet (1979) 1.54

Relation between antibody response to Pseudomonas aeruginosa exoproteins and colonization/infection in patients with cystic fibrosis. Acta Paediatr Scand (1984) 1.54

p38 kinase is activated in the Alzheimer's disease brain. J Neurochem (1999) 1.50

Prospective study of serum antibodies to Pseudomonas aeruginosa exoproteins in cystic fibrosis. J Clin Microbiol (1987) 1.49

Presence of cystic fibrosis-related diabetes mellitus is tightly linked to poor lung function in patients with cystic fibrosis: data from the European Epidemiologic Registry of Cystic Fibrosis. Pediatr Pulmonol (2001) 1.49

Orcein-positive liver deposits in Indian childhood cirrhosis. Lancet (1978) 1.47

European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol (2001) 1.44

General methods for the analysis of metabolic profiles of bile acids and related compounds in feces. J Lipid Res (1983) 1.41

Natural history of liver disease in cystic fibrosis. Hepatology (1999) 1.40

Idiopathic rhabdomyolysis. J R Soc Med (1996) 1.38

Identification of mono- and dihydroxy bile acids in human feces by gas-liquid chromatography and mass spectrometry. J Lipid Res (1966) 1.37

Inhibition of binding of malaria-infected erythrocytes by a tetradecasaccharide fraction from chondroitin sulfate A. Infect Immun (1998) 1.37

The effect of dietary fat on the turnover of cholic acid and on the composition of the biliary bile acids in man. J Clin Invest (1965) 1.36

Development of a PCR probe test for identifying Pseudomonas aeruginosa and Pseudomonas (Burkholderia) cepacia. J Clin Pathol (1994) 1.33

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child (1999) 1.32

Neurosteroids: 3 alpha-hydroxy-5 alpha-pregnan-20-one and its precursors in the brain, plasma, and steroidogenic glands of male and female rats. Endocrinology (1993) 1.32

Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest (1987) 1.32

Bile acid metabolism. Annu Rev Biochem (1975) 1.32

Gas chromatographic - mass spectrometric methods for the detection and identification of anabolic steroid drugs. Br J Sports Med (1975) 1.29

High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis. Eur J Biochem (1999) 1.28

Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy. Ann Med (2000) 1.28

Pathological regulation of arachidonic acid release in cystic fibrosis: the putative basic defect. Proc Natl Acad Sci U S A (1986) 1.28

Production and metabolism of lignans by the human faecal flora. J Appl Bacteriol (1985) 1.28

Potential bile acid precursors in plasma--possible indicators of biosynthetic pathways to cholic and chenodeoxycholic acids in man. J Steroid Biochem (1990) 1.28

Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology (1994) 1.28

Liquid-gel chromatography on lipophilic-hydrophobic Sephadex derivatives. J Lipid Res (1970) 1.26

Excretion of 3beta-hydroxy-5-cholenoic and 3a-hydroxy-5a-cholanoic acids in urine of infants with biliary atresia. FEBS Lett (1971) 1.26

Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry. BMJ (1999) 1.26

Increase of deoxycholate in supersaturated bile of patients with cholesterol gallstone disease and its correlation with de novo syntheses of cholesterol and bile acids in liver, gallbladder emptying, and small intestinal transit. Hepatology (1995) 1.25

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut (2003) 1.24

Importance of a novel oxidative mechanism for elimination of intracellular cholesterol in humans. Arterioscler Thromb Vasc Biol (1996) 1.23

Biosynthesis of a novel bile acid nucleotide and mechanism of 7 alpha-dehydroxylation by an intestinal Eubacterium species. J Biol Chem (1987) 1.22

Lignan formation in man--microbial involvement and possible roles in relation to cancer. Lancet (1981) 1.22

Dose-dependent absorption of amoxycillin and bacampicillin. Clin Pharmacol Ther (1985) 1.21

Negative-ion electrospray mass spectrometry of neutral underivatized oligosaccharides. Anal Chem (2001) 1.21

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. J Med Genet (1994) 1.20

Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy. Arch Dis Child (1976) 1.19

Diurnal changes in serum unconjugated bile acids in normal man. Gut (1982) 1.19

Munchausen syndrome by proxy. Lancet (1978) 1.19

Occurrence of 3 beta-hydroxy-5-cholestenoic acid, 3 beta,7 alpha-dihydroxy-5-cholestenoic acid, and 7 alpha-hydroxy-3-oxo-4-cholestenoic acid as normal constituents in human blood. J Lipid Res (1988) 1.19

Bacterial colonisation with Xanthomonas maltophilia--a retrospective study in a cystic fibrosis patient population. Infection (1995) 1.19

Bile acids and cholesterol in guinea pigs with induced gallstones. Am J Physiol (1966) 1.19

Stimulation of bile acid 6 alpha-hydroxylation by rifampin. J Hepatol (1996) 1.19

Severe hypercholesterolaemia leads to strong Th2 responses to an exogenous antigen. Scand J Immunol (2004) 1.19

Vernix caseosa as a multi-component defence system based on polypeptides, lipids and their interactions. Cell Mol Life Sci (2005) 1.18

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J Med Genet (1994) 1.17

Clinical phenotype of desmosterolosis. Am J Med Genet (1998) 1.17

Bile acids and pancreatic enzymes during absorption in the newborn. Acta Paediatr Scand (1972) 1.17

Characterization of heparin oligosaccharide mixtures as ammonium salts using electrospray mass spectrometry. Anal Chem (1998) 1.15

Enterocytic CYP3A4 in a paediatric population: developmental changes and the effect of coeliac disease and cystic fibrosis. Br J Clin Pharmacol (2001) 1.15

Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology (1988) 1.15

Antibodies to staphylococcal teichoic acid and alpha toxin in patients with cystic fibrosis. Acta Paediatr Scand (1986) 1.15

Current clinical management of hepatic problems in cystic fibrosis. J R Soc Med (1986) 1.14

Pharmacological and clinical study of bacampicillin in acute peritonsillitis--a comparison with ampicillin. Antimicrob Agents Chemother (1977) 1.14

Origin of lignans in mammals and identification of a precursor from plants. Nature (1982) 1.13

Serum bile acid levels in pregnancy with pruritus (bile acids and steroids 158). Clin Chim Acta (1966) 1.13

Neoglycolipids: probes of oligosaccharide structure, antigenicity, and function. Methods Enzymol (1994) 1.13

Brain contains HNK-1 immunoreactive O-glycans of the sulfoglucuronyl lactosamine series that terminate in 2-linked or 2,6-linked hexose (mannose). J Biol Chem (1997) 1.12

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology (1992) 1.12

Twice daily dosage of bacampicillin in chronic bronchitis. A double-blind study. Scand J Respir Dis (1978) 1.12

Oligosaccharide-mediated interactions of the envelope glycoprotein gp120 of HIV-1 that are independent of CD4 recognition. AIDS (1989) 1.11

Impaired neurotransmitter amine metabolism in arginase deficiency. J Neurol Neurosurg Psychiatry (1985) 1.11

Factors associated with poor pulmonary function: cross-sectional analysis of data from the ERCF. European Epidemiologic Registry of Cystic Fibrosis. Eur Respir J (2001) 1.11

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology (2004) 1.10

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci U S A (1998) 1.09

A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry. Pediatr Res (1998) 1.09

A systematic analytical chemistry/cell assay approach to isolate activators of orphan nuclear receptors from biological extracts: characterization of peroxisome proliferator-activated receptor activators in plasma. J Lipid Res (1993) 1.09

Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts. Clin Chim Acta (1986) 1.09

Characterization of trisubstituted cholanoic acids in human feces. J Lipid Res (1966) 1.08