Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids
about
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementThe bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasisIdentification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver diseaseThe molecular genetics of familial intrahepatic cholestasisMutations in the MDR3 gene cause progressive familial intrahepatic cholestasisBile acid metabolism and signalingBile acid N-acetylglucosaminidation. In vivo and in vitro evidence for a selective conjugation reaction of 7 beta-hydroxylated bile acids in humansDelta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesisProfile of urinary bile acids in infants and children: developmental pattern of excretion of unsaturated ketonic bile acids and 7beta-hydroxylated bile acidsDelta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acidMechanisms of liver injury relevant to pediatric hepatology.An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to ricketsGenetics of familial intrahepatic cholestasis syndromes.Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acidMicellar solubilisation of cholesterol is essential for absorption in humans.Differential diagnosis in patients with suspected bile acid synthesis defects.Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid functionHomozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.Mechanisms of disease: Inborn errors of bile acid synthesis.Bile acids: analysis in biological fluids and tissuesDisorders of bile acid synthesis.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.Identification of Two Sulfated Cholesterol Metabolites Found in the Urine of a Patient with Niemann-Pick Disease Type C as Novel Candidate Diagnostic Markers.Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 geneMolecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.A new category of causes of intrahepatic cholestasis.Growth and development of a new subspecialty: pediatric hepatology.Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann-Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiencGenetic profiling of children with advanced cholestatic liver disease.Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.
P2860
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P2860
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids
description
1987 nî lūn-bûn
@nan
1987 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@ast
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@en
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@nl
type
label
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@ast
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@en
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@nl
prefLabel
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@ast
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@en
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@nl
P2093
P2860
P356
P1476
Familial giant cell hepatitis ...... a-trihydroxy-5-cholenoic acids
@en
P2093
A M Lawson
J V Leonard
K D Setchell
P T Clayton
S Andersson
P2860
P304
P356
10.1172/JCI112915
P407
P577
1987-04-01T00:00:00Z