Zobrazeno 1 - 10
of 609
pro vyhledávání: '"Anil, Dhawan"'
Autor:
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 255-261 (2024)
Abstract Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life. It is c
Externí odkaz:
https://doaj.org/article/e08df0a789ed4de9ad5e32b318cf89af
Autor:
Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101020- (2023)
Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT
Externí odkaz:
https://doaj.org/article/4b378179f00043a097ba2e977f075d5f
Autor:
Akshat Goel, Robert Hegarty, Shweta Dixit, Bethany Tucker, Abdel Douiri, Eirini Kyrana, Vandana Jain, Anil Dhawan, Tassos Grammatikopoulos
Publikováno v:
JHEP Reports, Vol 5, Iss 12, Pp 100935- (2023)
Background & Aims: Von Willebrand factor antigen (vWFAg), a protein measured to test the level of vWF released from the vascular endothelium has gained much attention as a marker for portal hypertension (PHT) severity. The objectives of this study we
Externí odkaz:
https://doaj.org/article/5438b6b89dc84cf0b845f546a4966698
Autor:
Gabriella Assante, Sriram Chandrasekaran, Stanley Ng, Aikaterini Tourna, Carolina H. Chung, Kowsar A. Isse, Jasmine L. Banks, Ugo Soffientini, Celine Filippi, Anil Dhawan, Mo Liu, Steven G. Rozen, Matthew Hoare, Peter Campbell, J. William O. Ballard, Nigel Turner, Margaret J. Morris, Shilpa Chokshi, Neil A. Youngson
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-16 (2022)
Abstract Background The incidence of non-alcoholic fatty liver disease (NAFLD)-associated hepatocellular carcinoma (HCC) is increasing worldwide, but the steps in precancerous hepatocytes which lead to HCC driver mutations are not well understood. He
Externí odkaz:
https://doaj.org/article/4c59d9255acd4dbe97a0e6aee280b26c
Publikováno v:
Therapeutic Advances in Endocrinology and Metabolism, Vol 14 (2023)
In children, fatty liver disease is a group of disorders that often overlaps with inherited metabolic disorders (IMDs), which requires prompt diagnosis and specific management. Metabolic dysfunction–associated fatty liver disease (MAFLD) or, former
Externí odkaz:
https://doaj.org/article/3c0120fedce04c3f8fde2e17a55be6d3
Autor:
Tassos Grammatikopoulos, Nedim Hadzic, Pierre Foskett, Sandra Strautnieks, Marianne Samyn, Roshni Vara, Anil Dhawan, Jozef Hertecant, Fatma Al Jasmi, Obydur Rahman, University of Washington Center for Mendelian Genomics, Maesha Deheragoda, Laura N. Bull, Richard J Thompson
Publikováno v:
Hepatology Communications, Vol 6, Iss 3, Pp 473-479 (2022)
Mutations in the transaldolase 1 (TALDO1) gene have been described in a limited number of cases. Several organs can be affected and clinical manifestations are variable, but often include liver dysfunction and/or hepatosplenomegaly. We report 4 patie
Externí odkaz:
https://doaj.org/article/940c477ffd0640db99f0a2ccb9b4a507
Autor:
Claudia Mighiu, Sonia O’Hara, Enrico Ferri Grazzi, Karen F. Murray, Jörn M. Schattenberg, Emily Ventura, Melanie Karakaidos, Alison Taylor, Harpreet Brrang, Anil Dhawan, Jose Willemse, Alan Finnegan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is published in this area. We re
Externí odkaz:
https://doaj.org/article/e0b23825ac854b53acaf7e8711c99ff9
Autor:
Gabriella Assante, Sriram Chandrasekaran, Stanley Ng, Aikaterini Tourna, Carolina H. Chung, Kowsar A. Isse, Jasmine L. Banks, Ugo Soffientini, Celine Filippi, Anil Dhawan, Mo Liu, Steven G. Rozen, Matthew Hoare, Peter Campbell, J. William O. Ballard, Nigel Turner, Margaret J. Morris, Shilpa Chokshi, Neil A. Youngson
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/eb93debd63754739be2c1d678c35747f
Publikováno v:
Viruses, Vol 15, Iss 5, p 1059 (2023)
Infections after liver transplantation (LT) are risk factors for morbidity and mortality. Infections, especially of viral etiologies, still have an impact on the graft function and overall outcome. The aim was to review the epidemiology and risk fact
Externí odkaz:
https://doaj.org/article/5b37dc7b1a3a437480006815ea13dd88
Autor:
Sunitha Vimalesvaran, Lara Neves Souza, Maesha Deheragoda, Marianne Samyn, Jemma Day, Anita Verma, Hector Vilca-Melendez, Mohamed Rela, Nigel Heaton, Anil Dhawan
Publikováno v:
EClinicalMedicine, Vol 38, Iss , Pp 100987- (2021)
Background: Patient and graft survival 20-years after pediatric liver transplantation (pLT) are excellent. In children, attainment of normal growth, education and social adaptation to be an independent adult are equally important. This is particularl
Externí odkaz:
https://doaj.org/article/746e99f3266743a29cb0887c013686a5