Congenital Bile Acid Synthesis Defect Type 3 With Severe Neonatal Cholestasis
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric and Developmental Pathology"
DOI: 10.1177/10935266221103997
Abstract: Congenital bile acid synthesis defect type 3 is a rare metabolic liver disease with only eight patients reported in literature. We describe clinical, pathological and molecular features for a ninth patient. A 4-month-old infant presented… read more here.
Keywords: acid synthesis; defect type; congenital bile; bile ... See more keywords
Successful treatment of an infant with congenital bile acid synthesis disorder type 3 by ursodeoxycholic acid: a case report
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-022-03365-z
Abstract: Congenital bile acid synthesis disorder type 3 caused by oxysterol 7α-hydroxylase deficiency is an extremely rare genetic liver disease. As it may cause rapid progression to end-stage liver disease, a high cautiousness in diagnosis and… read more here.
Keywords: disorder type; congenital bile; acid synthesis; bile acid ... See more keywords