ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history

Partial External Biliary Diversion in Children With Progressive Familial Intrahepatic Cholestasis and Alagille Disease

(2009) Huiqi Yang et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation

(2009) Aya Miyagawa-Hayashino et al.   LIVER TRANSPLANTATION

Progressive familial intrahepatic cholestasis

(2009) Anne Davit-Spraul et al.   Orphanet Journal of Rare Diseases

ATP8B1 is essential for maintaining normal hearing

(2009) J. M. Stapelbroek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion

(2008) Karan M Emerick et al.   BMC GASTROENTEROLOGY

Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

(2008) Sandra S. Strautnieks et al.   GASTROENTEROLOGY

ATP8B1 Deficiency Disrupts the Bile Canalicular Membrane Bilayer Structure in Hepatocytes, But FXR Expression and Activity Are Maintained

(2008) Shi–Ying Cai et al.   GASTROENTEROLOGY

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

(2008) Jane A. Byrne et al.   HEPATOLOGY

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis

(2008) Henrik Arnell et al.   JOURNAL OF PEDIATRIC SURGERY