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 (…
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …