Clinical and laboratory features of biliary atresia and patterns of management practices: Saudi national study (2000–2018)

Autor: Homoud Alhebbi, Mohammed El-Edreesi, Mohammed Abanemai, Omar Saadah, Maher Alhatlani, Hana Halabi, Razan Bader, Ahmed Al Sarkhy, Ahmed Aladsani, Sami Wali, Talal Alguofi, Nawaf Alkhathran, Amira NasserAllah, Muhammed Salman Bashir, Abdulrahman Al-Hussaini

Publikováno v: The Saudi Journal of Gastroenterology, Vol 30, Iss 2, Pp 89-95 (2024)

Background: We utilized the data from the Saudi national biliary atresia (BA) study (2000–2018) to describe the clinical, biochemical, imaging, and histopathological features of BA and the perioperative clinical practices among local pediatric gast

Externí odkaz: https://doaj.org/article/0719f0c11b474f27ad72af045f30df34

The Epidemiology and Outcome of Biliary Atresia: Saudi Arabian National Study (2000–2018)

Autor: Abdulrahman Al-Hussaini, Mohammed Abanemai, Homoud Alhebbi, Omar Saadah, Razan Bader, Ahmed Al Sarkhy, Maher Alhatlani, Hana Halabi, Ahmed Aladsani, Mohammed AlEdreesi, Sami Wali, Talal Alguofi, Khalid Al-drees, Zahid Arain, Badr Al Saleem, Ali Asery, Sinan Holdar, Sami Alrashidi, Fahad Alsayed, Sulaiman Aldhalan, Amira NasserAllah, Rawabi Alghamdi, Faisal Alhaffaf, Ahmed AlAwfi, Abdulrahman AlSweed, Ali Alshamrani, Manal AlShaikh, Anjum Saeed, Heba Assiri, Muhammed Salman Bashir

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

BackgroundThe epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian Orientals and Caucasians, with incidence ranging from 1 in 5,000 to 1 in 9,000 live births in E

Externí odkaz: https://doaj.org/article/07ecf159eebe4ef5a5bb01841b0d3666

Predictors of biliary atresia outcome: Saudi National Study (2000 – 2018)

Autor: Abdulrahman Al-Hussaini, Mohammed Abanemai, Mohammed AlEdreesi, Ahmed Al Sarkhy, OmarI Saadah, Homoud Alhebbi, Razan Bader, Maher Alhatlani, Hana Halabi, Ahmed Aladsani, Sami Wali, Talal Alguofi, Fahad Alsayed, Amira NasserAllah, Ahmed Almehmadi, Afnan Qurban, MuhammedSalman Bashir, Aisha Alamri

Publikováno v: Saudi Journal of Gastroenterology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00690190343a46f6411fb656abd4c021
https://doi.org/10.4103/sjg.sjg_512_22

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Autor: Badr Alsaleem, Rana Helaby, Hanan E. Shamseldin, Nisha Patel, Sami Wali, Hamoud Alhebbi, Firdous Abdulwahab, Nour Ewida, Eman Alobeid, Xin Gao, Dorota Monies, Amal Alhashem, Sateesh Maddirevula, Ramzan Umarov, Maha Alqahtani, Afaf Alsagheir, Fowzan S. Alkuraya, Hiroyuki Kuwahara, Nadine Hanna, Maha AlAli, Niema Ibrahim, Fatema Alzahrani, Nada Derar, Hessa S. Alsaif, Mona M. Alenazi, Tarfa Al-Sheddi, Mais Hashem, Hatoon Al Ali

Publikováno v: Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
Genome Biology

Background At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute to this fraction is unclear. Whole trans

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506ab9823a3f6edb2d8ff7717fcd0109
https://doi.org/10.1186/s13059-020-02053-9

Outcomes of Surgical Management of Familial Intrahepatic Cholestasis 1 and Bile Salt Export Protein Deficiencies

Autor: Richard J. Thompson, Giorgina Mieli-Vergani, Patricia McClean, Kaija-Leena Kolho, Jennifer L. Dodge, Irena Jankowska, Piotr Czubkowski, Ludmila Pawlikowska, Sami Wali, Florence Lacaille, Philip J. Rosenthal, Steven J. Lobritto, Vera Hupertz, Etienne Sokal, Karan M. Emerick, Sandra Strautnieks, Albertien M. van Eerde, Roderick H. J. Houwen, J A Byrne, Laura N. Bull, Peter F. Whitington, Catherine Wanty, Joanna Pawłowska, Samra Blanchard

Publikováno v: Bull, L N, Pawlikowska, L, Strautnieks, S, Jankowska, I, Czubkowski, P, Dodge, J L, Emerick, K, Wanty, C, Wali, S, Blanchard, S, Lacaille, F, Byrne, J A, van Eerde, A M, Kolho, K-L, Houwen, R, Lobritto, S, Hupertz, V, McClean, P, Mieli-Vergani, G, Sokal, E, Rosenthal, P, Whitington, P F, Pawlowska, J & Thompson, R J 2018, ' Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies ', Hepatology Communications, vol. 2, no. 5, pp. 515-528 . https://doi.org/10.1002/hep4.1168
Hepatology communications, 2(5), 515. Wiley-Blackwell Publishing Ltd
Hepatology communications, vol 2, iss 5
Hepatology Communications

Progressive familial intrahepatic cholestasis (PFIC) with normal circulating gamma-glutamyl transpeptidase levels can result from mutations in the ATP8B1 gene (encoding familial intrahepatic cholestasis 1 [FIC1] deficiency) or the ABCB11 gene (bile s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec6a4e8d6de0b74ba0d5a189850110e
http://hdl.handle.net/10138/299438