Inborn Errors of Bile Acid Metabolism.
Clin Liver Dis
; 22(4): 671-687, 2018 11.
Article
in En
| MEDLINE
| ID: mdl-30266156
ABSTRACT
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be considered in the context of hyperbilirubinemia with normal serum bile acids and made by urinary liquid secondary ionization mass spectrometry or DNA testing. Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder with liver disease.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Bile Acids and Salts
/
Cholestasis
/
Liver Diseases
/
Metabolism, Inborn Errors
Type of study:
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Clin Liver Dis
Journal subject:
GASTROENTEROLOGIA
Year:
2018
Document type:
Article
Publication country:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA