Winita Hardikar

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.

Katja Apelt, Susan M White, Hyun Suk Kim, Jung-Eun Yeo, Angela Kragten, Annelotte P Wondergem, Martin A Rooimans, Román González-Prieto, Wouter W Wiegant, Sebastian Lunke, Daniel Flanagan, Sarah Pantaleo, Catherine Quinlan, Winita Hardikar, Haico van Attikum, Alfred CO Vertegaal, Brian T Wilson, Rob MF Wolthuis, Orlando D Schärer, Martijn S Luijsterburg

Journal article  |  2021  |  Journal of Experimental Medicine

ERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER), interstrand cross-link (ICL) repair, and..

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

Kathryn Clarkston, Joy Lee, Sarah Donoghue, Heidi Peters, Hernan Eiroa, Amit A Shah, Kathleen Loomes, Jessica Wen, Mark Oliver, Winita Hardikar, Carlos E Prada, Akihiro Asai

Journal article  |  2020  |  American Journal of Medical Genetics Part A

We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepat..

LONG TERM FOLLOW-UP OF SAFETY AND EFFICACY OF SOFOSBUVIR-BASED HCV DAAS IN PEDIATRIC PATIENTS

Jessica Wen, Suzanne Whitworth, Daniel H Leung, Philip Rosenthal, Chuan-Hao Lin, Wikrom Karnsakul, Sanjay Bansal, Ronen Amon, Rene Romero, Girish S Rao, Michael R Narkewicz, Jonathan R Honegger, Christopher Jolley, Maureen M Jonas, Jiang Shao, Diana M Brainard, Kathryn Kersey, Anuj Gaggar, William Balistreri, Winita Hardikar, et al.

Conference Proceedings  |  2020  |  HEPATOLOGY

PHENOTYPIC DIVERGENCE OF JAGGED1 AND NOTCH2-ASSOCIATED ALAGILLE SYNDROME: RESULTS FROM THE INTERNATIONAL MULTICENTER GALA STUDY GROUP

Shannon Vandriel, Liting Li, Huiyu She, Jian-She Wang, Melissa A Gilbert, Nancy B Spinner, Kathleen M Loomes, David A Piccoli, Lorenzo D'Antiga, Emanuele Nicastro, Pier Luigi Calvo, Winita Hardikar, Sahana Shankar, Rima L Fawaz, Silvia Nastasio, Pinar Bulut, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz-Miedzinska, Etienne Sokal, et al.

Conference Proceedings  |  2020  |  HEPATOLOGY

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

Joy Yaplito-Lee, Gautham Pai, Winita Hardikar, Kai M Hong, James Pitt, Justine Marum, David J Amor

Journal article  |  2020  |  JIMD Reports

Lathosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by defects in the SC5D (sterol C5..

Outcomes for children after second liver transplantations are similar to those after first transplantations: a binational registry analysis

Angus W Jeffrey, Gary P Jeffrey, Michael Stormon, Gordon Thomas, Edward O'Loughlin, Albert Shun, Winita Hardikar, Robert Jones, John McCall, Helen Evans, Graham Starkey, Peter Hodgkinson, Looi C Ee, David Moore, Catherine Mews, Geoff W McCaughan, Peter W Angus, Alan J Wigg, Michael Crawford, Jonathan Fawcett

Journal article  |  2020  |  Medical Journal of Australia

Paediatric liver transplantation in Australia and New Zealand: 1985-2018

Michael O Stormon, Winita Hardikar, Helen M Evans, Peter Hodgkinson

Journal article  |  2020  |  Journal of Paediatrics and Child Health

Thrombin dynamics in children with liver disease or extrahepatic portal vein obstruction or shunt

William Beattie, Romy Kremers, Maria Magnusson, Tessa Peters, Bas de Laat, Winita Hardikar, Paul Monagle, Vera Ignjatovic

Journal article  |  2020  |  Thrombosis Research

INTRODUCTION: Changes in the coagulation profile in children with liver disease and extrahepatic portal vein obstruction or shunt ..

Normal Gamma Glutamyl Transferase Levels at Presentation Predict Poor Outcome in Biliary Atresia

Sahana Shankar, Rishi Bolia, Hee Wei Foo, Colleen E D'Arcy, Natasha Hardikar, Martin Wensing, Winita Hardikar

Journal article  |  2020  |  Journal of Pediatric Gastroenterology and Nutrition

OBJECTIVES: Gamma-glutamyl transferase levels (GGT) are typically elevated in biliary atresia (BA), but normal GGT levels have bee..

Analysis of the in vitro replication phenotype of African hepatitis B virus (HBV) genotypes and subgenotypes present in Australia identifies marked differences in DNA and protein expression

E Bannister, V Sozzi, H Mason, S Locarnini, W Hardikar, PA Revill

Journal article  |  2020  |  Virology

Hepatitis B virus infection in Africa is characterised by distinct genotypes with observed differences in natural history and clin..