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Quoted phrase not found in phrase index: "Congenital bile acid synthesis defect 3"
Page 1
Bile acid synthetic defects and liver disease: a comprehensive review.
Pediatr Dev Pathol. 2004 Jul-Aug;7(4):315-34. doi: 10.1007/s10024-002-1201-8. Epub 2004 Jul 15.
Pediatr Dev Pathol. 2004.
PMID: 15383928
Review.
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants, are reviewed with emphasis on morphology of associated liver disease. ...The course of BASD may be modified b …
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent …
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P.
Vitale G, et al.
J Gastroenterol. 2018 Aug;53(8):945-958. doi: 10.1007/s00535-017-1423-1. Epub 2017 Dec 13.
J Gastroenterol. 2018.
PMID: 29238877
Bioinformatics analyses were performed for mechanistic and functional predictions of their consequences on biomolecular interaction interfaces. ...Patients with pathogenic/likely pathogenic mutations had higher levels of liver stiffness (measured by FibroScan()) and bil …
Bioinformatics analyses were performed for mechanistic and functional predictions of their consequences on biomolecular interaction i …
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