Mechanisms of disease: Inborn errors of bile acid synthesis. - Wikidata - awgldk - TriplyDB

Mechanisms of disease: Inborn errors of bile acid synthesis.

Mechanisms of disease: Inborn errors of bile acid synthesis.

http://www.wikidata.org/entity/Q37199631

about

Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment Reloading against rare liver diseases.Rate of steroid double-bond reduction catalysed by the human steroid 5β-reductase (AKR1D1) is sensitive to steroid structure: implications for steroid metabolism and bile acid synthesis Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis Cholestenoic acid, an endogenous cholesterol metabolite, is a potent γ-secretase modulator.Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Bile acids: the role of peroxisomes.Role of the bile salt export pump, BSEP, in acquired forms of cholestasis.Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders Lipid rafts are essential for peroxisome biogenesis in HepG2 cells.Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders Analysis of Bile Acids Profile in Human Serum by Ultrafiltration Clean-up and LC-MS/MS

P2860

Q28083869-0B0FF83A-2B1F-4EB7-BEA1-FDA8139E5AB9 Q33557045-5A579D3A-504F-43A1-931A-A4DB2FC5B9DF Q34179770-073180E2-578E-4D76-A33E-E41A52F737CD Q34382405-2240FA7E-F125-4325-B113-063B98AC8284 Q35556926-E088B708-0427-45B4-9F1B-574F01D9CE80 Q35848336-3CD5754A-4831-4FC9-89D4-7D67EDCAA35A Q36005581-A6431726-FDD8-4850-BE61-C6058896C008 Q36492697-900BDA75-46F1-4279-B490-04663109684F Q37323232-CFD5E161-4D83-472C-BAF2-6A33A01EFB93 Q37382119-A158BE9E-C799-4BCF-8752-8835ACC64BFD Q37661069-8E47DDEA-4370-467B-BB27-E4123B258FD2 Q41434658-E263D862-3885-4B3E-B080-1FE39FE43BC8 Q42947246-F0E173A9-BE70-4D7F-B9B3-F234EFFBD04C Q43040980-4401A5CA-7CD7-401F-9256-5654C3B0DB16 Q57116436-3C6EE467-6078-40AC-B79A-EDF33DB31AB8 Q58831900-1DB01960-FF36-4B9D-BED7-23036183BBC0

P2860

Mechanisms of disease: Inborn errors of bile acid synthesis.

http://www.wikidata.org/entity/Q37199631

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 24 June 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Mechanisms of disease: Inborn errors of bile acid synthesis.

@en

Mechanisms of disease: Inborn errors of bile acid synthesis.

@nl

type

label

Mechanisms of disease: Inborn errors of bile acid synthesis.

@en

Mechanisms of disease: Inborn errors of bile acid synthesis.

@nl

prefLabel

Mechanisms of disease: Inborn errors of bile acid synthesis.

@en

Mechanisms of disease: Inborn errors of bile acid synthesis.

@nl

P1433

Q37199631-76620005-94CC-4113-A646-964DE68B18FF

P1476

Q37199631-0468EFFB-BEDE-486A-934C-DD0743986D8C

P2093

Q37199631-1A164C4A-D280-41E2-B69D-BD6FB8F1BE21

Q37199631-A47D8C15-DA04-4264-957F-D268C5603C41

Q37199631-C23CEFEA-39DB-4938-8A59-2CD2FD461C7C

Q37199631-F5C642E6-27BD-4286-A91E-2F33E6C33318

P2860

Q37199631-03EE8CA0-DB09-46A9-8BE8-5BB6E0FA36B0

Q37199631-05893D82-BAB9-42B7-8BE6-4D21D0DB5178

Q37199631-066574F2-217D-4100-883D-E1909C3192A4

Q37199631-0BBAF0B4-90FC-4615-80E3-56903271678D

Q37199631-0FAB8A6E-5E1F-4C35-BF7F-4C17558692A9

Q37199631-114A78DF-8B00-4421-AC9C-D016A1AF10A6

Q37199631-1169139D-A831-4252-B5A2-0882B5F10720

Q37199631-135E6C40-93D9-4762-8AEA-9B9773E56FE3

Q37199631-159CEC45-27FB-4F6C-9B11-6E899AF7160F

Q37199631-2A6132B0-8AB1-4FAF-833B-FFAFCE3A17A1

P2888

Q37199631-1E909636-F0FB-4CCD-94E0-BAF3891A9934

P304

Q37199631-E2ADBBA5-8526-4BDF-9FCC-65DE02D45311

P31

Q37199631-7215E4A6-77D8-4EBE-A9E4-9FFEAF4C4F67

P356

Q37199631-4B2B43E1-EA3A-4248-AA18-AECD87A8C12B

P407

Q37199631-5E417D61-71DE-4FA1-8702-8A8EF5F0BB2A

P433

Q37199631-A5AD7873-0E1E-4CFE-AEE9-866CD39646E6

P478

Q37199631-3A4A1AB8-FC1B-46F7-B4F5-C17103560819

P577

Q37199631-AFD59493-7345-4922-A5EC-7C9F4FF2AADC

P5875

Q37199631-7E523DA5-C212-4696-8B19-36B90B61421D

P698

Q37199631-B226E393-9FBD-49A0-A2A0-CD698C225525

P932

Q37199631-7050EE7B-3F09-4FCD-BA4F-0D49C3111D10

P356

P1433

Nature Reviews Gastroenterology & Hepatology

P1476

Mechanisms of disease: Inborn errors of bile acid synthesis.

@en

P2093

Kevin E Bove

http://www.w3.org/2001/XMLSchema#string

Mark A Lovell

http://www.w3.org/2001/XMLSchema#string

Ronald J Sokol

http://www.w3.org/2001/XMLSchema#string

Shikha S Sundaram

http://www.w3.org/2001/XMLSchema#string

P2860

Identification of a nuclear receptor for bile acids

Bile acids: natural ligands for an orphan nuclear receptor

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

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

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

Glycine and taurine conjugation of bile acids by a single enzyme. Molecular cloning and expression of human liver bile acid CoA:amino acid N-acyltransferase

Identification of farnesoid X receptor beta as a novel mammalian nuclear receptor sensing lanosterol

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

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder

Endogenous bile acids are ligands for the nuclear receptor FXR/BAR

P2888

P304

456-468

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/NCPGASTHEP1179

http://www.w3.org/2001/XMLSchema#string

P407

P433

8

http://www.w3.org/2001/XMLSchema#string

P478

5

http://www.w3.org/2001/XMLSchema#string

P577

2008-06-24T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

5278212

http://www.w3.org/2001/XMLSchema#string

P698

18577977

http://www.w3.org/2001/XMLSchema#string

P932

3888787

http://www.w3.org/2001/XMLSchema#string