Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families

…, P McClean, PF Whitington, É Sokal, M Jirsa, SH Wali… - Gastroenterology, 2008 - Elsevier
Background & Aims: Patients with severe bile salt export pump (BSEP) deficiency present as
infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (…

[PDF][PDF] Management of Crigler-Najjar syndrome type I

…, DC Broering, XG Rogiers, SH Wali… - Saudi medical …, 2001 - researchgate.net
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 …

[HTML][HTML] Percutaneous endoscopic gastrostomy in children: A single center experience in Saudi Arabia

…, BA Ahmad, MR Almutairi, SA Wali… - Saudi Medical …, 2021 - ncbi.nlm.nih.gov
Objectives: To evaluate the demographic data and complications in children who had
undergone percutaneous endoscopic gastrostomy (PEG) over 9 years period. Methods: The …

[PDF][PDF] One hundred and thirty-seven living donor pediatric liver transplants at Riyadh Military Hospital

…, ZB Arain, HA Al-Hebbi, SH Wali… - Results and outlook …, 2009 - researchgate.net
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 …

Pediatric living-related liver transplantation in Saudi Arabia.

…, MA Zuleika, HA Al-Hebby, SH Wali - Saudi medical …, 2002 - europepmc.org
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 …

[PDF][PDF] Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population

…, A Alnahari, I Ghemlas, M Hussein, S Wali… - The American Journal of …, 2019 - cell.com
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2,200 previously unpublished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 …

Differences in presentation and progression between severe FIC1 and BSEP deficiencies

…, C Wanty, B Fischler, E Jacquemin, S Wali… - Journal of …, 2010 - Elsevier
BACKGROUND & AIMS: Progressive familial intrahepatic cholestasis (PFIC) with normal
serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding …

In search of triallelism in Bardet–Biedl syndrome

…, E Faqeih, A Softah, A Al-Hashem, S Wali… - European journal of …, 2012 - nature.com
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 …

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

…, O AlSasi, A Alhashem, H Al-Hussaini, S Wali… - 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 …

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

…, B Tabarki, S AlShahwan, K Hundallah, S Wali… - Molecular genetics and …, 2017 - Elsevier
Purpose Whole-exome sequencing (WES) can help identify known and novel pathogenic
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …