Background & Aims: Patients with severe bile salt export pump (BSEP) deficiency present as
infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (…

Criggle 20000322 Page 1 Crigler-Najjar Syndrome type I is a rare congenital disease with
high mortality and morbidity rates due to brain complications. It has been treated by life-long …

Objectives: To review the results of 137 living donor pediatric liver transplants performed at
Riyadh Military Hospital (RMH). Methods: Retrospective analysis of the in-and out-patient …

OBJECTIVE: The purpose of this paper is to report our experience of the first 29 consecutive
living-related liver transplants in pediatric recipients and to demonstrate the feasibility of …

We report here, the first pediatric living-related liver transplant in Saudi Arabia and the Middle
East. Our patient is a 2 year old girl with a diagnosis of progressive familial intrahepatic …

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

BACKGROUND & AIMS: Progressive familial intrahepatic cholestasis (PFIC) with normal
serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding …

Bardet–Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable
genetic heterogeneity that characterizes this disease is consistent with accumulating data on …

… h Sanger sequencing showing the identified variant in LSR and a cartoon showing the
protein structure (Ig domain plays a role in protein folding and other biological pathways) …

Background Pediatric inflammatory bowel disease (IBD) is increasingly recognized in
developing countries; however, the incidence and trend over time have not been reported. …