Defects in bile acid biosynthesis--diagnosis and treatment.
about
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementGenetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.Treatment of bile acid amidation defects with glycocholic acid.Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in ChinaA combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.Bile acids: the role of peroxisomes.Bile acids: analysis in biological fluids and tissuesCholic acid for hepatic steatosis in patients with lipodystrophy: a randomized, controlled trialInflammatory pseudo-tumor of the liver: a rare pathological entityOn the future of "omics": lipidomics.Treatment of Smith-Lemli-Opitz syndrome and other sterol disordersPrognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis.Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum DisordersRapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum.Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.Growth and development of a new subspecialty: pediatric hepatology.Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.Infant cholestasis patient with a novel missense mutation in the gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literatureAnalysis of Bile Acids Profile in Human Serum by Ultrafiltration Clean-up and LC-MS/MS
P2860
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P2860
Defects in bile acid biosynthesis--diagnosis and treatment.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Defects in bile acid biosynthesis--diagnosis and treatment.
@ast
Defects in bile acid biosynthesis--diagnosis and treatment.
@en
type
label
Defects in bile acid biosynthesis--diagnosis and treatment.
@ast
Defects in bile acid biosynthesis--diagnosis and treatment.
@en
prefLabel
Defects in bile acid biosynthesis--diagnosis and treatment.
@ast
Defects in bile acid biosynthesis--diagnosis and treatment.
@en
P1476
Defects in bile acid biosynthesis--diagnosis and treatment.
@en
P2093
James E Heubi
Kenneth D R Setchell
P304
P356
10.1097/01.MPG.0000226386.79483.7B
P407
P478
43 Suppl 1
P577
2006-07-01T00:00:00Z