Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeutics

AG Feldman, RJ Sokol - Nature reviews Gastroenterology & hepatology, 2019 - nature.com
Neonatal cholestasis is a group of rare disorders of impaired bile flow characterized by
conjugated hyperbilirubinaemia in the newborn and young infant. Neonatal cholestasis is …

Pediatric Cholestatic diseases: common and unique pathogenic mechanisms

H Sutton, SJ Karpen, BM Kamath - Annual Review of Pathology …, 2024 - annualreviews.org
Cholestasis is the predominate feature of many pediatric hepatobiliary diseases. The
physiologic flow of bile requires multiple complex processes working in concert. Bile acid …

Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation

AR Kemper, TB Newman, JL Slaughter… - …, 2022 - publications.aap.org
FINANCIAL/CONFLICT OF INTEREST DISCLOSURES: Dr Newman reported providing
expert witness consultation in medical malpractice litigation. Dr Maisels reported providing …

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial

RJ Thompson, H Arnell, R Artan… - The Lancet …, 2022 - thelancet.com
Background Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited
paediatric liver diseases resulting from mutations in genes that impact bile secretion. We …

Diagnostic yield of newborn screening for biliary atresia using direct or conjugated bilirubin measurements

S Harpavat, JA Garcia-Prats, C Anaya, ML Brandt… - Jama, 2020 - jamanetwork.com
Importance Treating biliary atresia in newborns earlier can delay or prevent the need for
liver transplant; however, treatment typically occurs later because biliary atresia is difficult to …

Recent developments in diagnostics and treatment of neonatal cholestasis

AG Feldman, RJ Sokol - Seminars in pediatric surgery, 2020 - Elsevier
Neonatal cholestasis is characterized by conjugated hyperbilirubinemia in the newborn and
young infant and is a sign common to over 100 hepatobiliary and/or metabolic disorders. A …

Cholestatic liver diseases of genetic etiology: Advances and controversies

SH Ibrahim, BM Kamath, KM Loomes, SJ Karpen - Hepatology, 2022 - Wiley Online Library
With the application of modern investigative technologies, cholestatic liver diseases of
genetic etiology are increasingly identified as the root cause of previously designated …

[HTML][HTML] Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

S Maddirevula, H Alhebbi, A Alqahtani, T Algoufi… - Genetics in …, 2019 - Elsevier
Purpose Genetic testing in pediatric cholestasis can be very informative but genetic causes
have not been fully characterized. Methods Exome sequencing and positional mapping in …

[HTML][HTML] Neonatal jaundice

B Ansong-Assoku, S Shah, M Adnan, P Ankola - StatPearls, 2024 - statpearls.com
Metabolic Pathway for Bilirubin in the Hepatocyte. Bilirubin-G corresponds to bilirubin
glucuronate; the donor is uridine diphosphate glucuronic acid (UDP-GA). This is catalyzed …

Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment

M Gunaydin, AT Bozkurter Cil - Hepatic Medicine: Evidence and …, 2018 - Taylor & Francis
Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive
cholestatic liver diseases which are subgrouped according to the genetic defect, clinical …