Primary Bile Acid Disorders: A Largely Unknown Group of Rare Genetic Diseases in Newborns

References (50)

1. 1 Identification of a Nuclear Receptor for Bile Acids [DOI]
2. 2 Bile Acids: Natural Ligands for an Orphan Nuclear Receptor [DOI]
3. 3 A Regulatory Cascade of the Nuclear Receptors FXR, SHP-1, and LRH-1 Represses Bile Acid Biosynthesis [DOI]
4. 4 Endogenous Bile Acids Are Ligands for the Nuclear Receptor FXR/BAR [DOI]
5. 5 Bile acid biosynthesis [DOI]
6. 6 Suppressed hepatic bile acid signalling despite elevated production of primary and secondary bile acids in NAFLD [DOI]
7. 7 Bile acid receptors FXR and TGR5 signaling in fatty liver diseases and therapy [DOI]
8. 8 BAREing it all: the adoption of LXR and FXR and their roles in lipid homeostasis [DOI]
9. 9 Discovery of farnesoid X receptor and its role in bile acid metabolism [DOI]
10. 10 Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. [DOI]
11. 11 Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis [DOI]
12. 12 Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene [DOI]
13. 13 Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases [DOI]
14. 14 Inborn Errors of Bile Acid Metabolism [DOI]
15. 15 Mechanisms of Disease: inborn errors of bile acid synthesis [DOI]
16. 16 Heart and bile acids – Clinical consequences of altered bile acid metabolism [DOI]
17. 17 A Current Understanding of Bile Acids in Chronic Liver Disease [DOI]
18. 18 Pediatric Cholestatic Liver Disease: Review of Bile Acid Metabolism and Discussion of Current and Emerging Therapies [DOI]
19. 19 Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention [DOI]
20. 20 Effects of odevixibat on pruritus and bile acids in children with cholestatic liver disease: Phase 2 study [DOI]
21. 21 Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. [DOI]
22. 22 Identification of Farnesoid X Receptor β as a Novel Mammalian Nuclear Receptor Sensing Lanosterol [DOI]
23. 23 REGULATION OF BILE ACID BIOSYNTHESIS [DOI]
24. 24 Potential bile acid precursors in plasma—Possible indicators of biosynthetic pathways to cholic and chenodeoxycholic acids in man [DOI]
25. 25 Bile Acid Synthetic Defects and Liver Disease: A Comprehensive Review [DOI]
26. 26 Mutations in SRD5B1 ( AKR1D1 ), the gene encoding Δ 4 -3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy [DOI]
27. 27 Bile Acid Synthetic Defects and Liver Disease [DOI]
28. 28 Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid. [DOI]
29. 29 Differential Interaction of Bile Acids from Patients with Inborn Errors of Bile Acid Synthesis with Hepatocellular Bile Acid Transporters [DOI]
30. 30 Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders [DOI]
31. 31 Open‐label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis [DOI]
32. 32 Odevixibat: a promising new treatment for progressive familial intrahepatic cholestasis [DOI]
33. 33 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. [DOI]
34. 34 The Farnesoid X Receptor (FXR) as Modulator of Bile Acid Metabolism [DOI]
35. 35 Juvenile Cataract Associated With Chronic Diarrhea in Pediatric Cerebrotendinous Xanthomatosis [DOI]
36. 36 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? [DOI]
37. 37 INTRAHEPATIC CHOLESTASIS OF PREGNANCY [DOI]
38. 38 Abnormal Bile Acid Metabolism and Neonatal Hemochromatosis: A Subset with Poor Prognosis [DOI]
39. 39 Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment [DOI]
40. 40 Inborn Errors of Bile Acid Synthesis [DOI]
41. 41 Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid. [DOI]
42. 42 Paediatric cerebrotendinous xanthomatosis [DOI]
43. 43 FXR, A Therapeutic Target for Bile Acid and Lipid Disorders [DOI]
44. 44 Purification and properties of a 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase from rabbit liver microsomes. [DOI]
45. 45 Disorders of Bile Acid Synthesis and Metabolism: A Metabolic Basis for Liver Disease [DOI]
46. 46 Cholestasis in the Premature Infant [DOI]
47. 47 LIVER DISEASE CAUSED BY DISORDERS OF BILE ACID SYNTHESIS [DOI]
48. 48 Comparison of the effects between ursodeoxycholic and chenodeoxycholic acids on liver function and structure and on bile acid composition in the rhesus monkey [DOI]
49. 49 Acute infusions of bile salts increase biliary excretion of iron in iron-loaded rats [DOI]
50. 50 Relationship between serum and biliary bile acids as an indicator of chenodeoxycholic and ursodeoxycholic acid-induced hepatotoxicity in the rhesus monkey [DOI]

Cited by 0

No indexed citations yet.

Related research

• Ear Diseases among Primary School Children in Ibadan Metropolis, Southwestern Nigeria — shares topic coverage
• Clinical Pattern of Acquired Thyroid Disorders in Childhood and Adolescents Attending Endocrine Unit, Tripoli Children Hospital — shares topic coverage
• Coagulation Profile of Children with Snake Envenomation in Yola, Nigeria — shares topic coverage
• Demographic, Clinical and Therapeutic Characteristics of Children Aged 0-15 years with Nephrotic Syndrome: A Retrospective Study of the Komfo Anokye Teaching Hospital, Kumasi, Ghana — shares topic coverage
• Accessibility of Children Living with HIV/AIDS to Hospitals in Ten Districts in Indonesia — shares topic coverage