Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
Get full text
Journal Article
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker
Rehsi, Preeya, Witek, Karolina, Emmett, Erin, Carling, Rachel, Turner, Charles, Dalton, Neil, Hutchin, Tim, Hadzic, Nedim, Dhawan, Anil, Vara, Roshni
Published in JIMD reports (01.07.2024)
Published in JIMD reports (01.07.2024)
Get full text
Journal Article
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK
Pinto, Alex, Ashmore, Catherine, Batzios, Spyros, Daly, Anne, Dawson, Charlotte, Dixon, Marjorie, Evans, Sharon, Green, Diane, Gribben, Joanna, Hunjan, Inderdip, Jameson, Elisabeth, Newby, Camille, Pierre, Germaine, Rajwal, Sanjay, Robertson, Louise, Santra, Si, Sharrard, Mark, Vara, Roshni, White, Lucy, Wilcox, Gisela, Yilmaz, Ozlem, MacDonald, Anita
Published in Nutrients (29.10.2020)
Published in Nutrients (29.10.2020)
Get full text
Journal Article
Liver transplantation for propionic acidemia in children
Vara, Roshni, Turner, Charles, Mundy, Helen, Heaton, Nigel D., Rela, Mohammed, Mieli‐Vergani, Giorgina, Champion, Mike, Hadzic, Nedim
Published in Liver transplantation (01.06.2011)
Published in Liver transplantation (01.06.2011)
Get full text
Journal Article
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
van Vliet, Kimber, van Ginkel, Willem G, Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M, Gissen, Paul, Goyens, Philippe J, McKiernan, Patrick J, Wilcox, Gisela, Morris, Andrew A M, Jameson, Elisabeth A, Huijbregts, Stephan C J, van Spronsen, Francjan J
Published in Orphanet journal of rare diseases (04.12.2019)
Published in Orphanet journal of rare diseases (04.12.2019)
Get full text
Journal Article
Liver transplantation for neonatal‐onset citrullinemia
Vara, Roshni, Dhawan, Anil, Deheragoda, Maesha, Grünewald, Stephanie, Pierre, Germaine, Heaton, Nigel D, Vilca‐Melendez, Hector, Hadžić, Nedim
Published in Pediatric transplantation (01.06.2018)
Published in Pediatric transplantation (01.06.2018)
Get full text
Journal Article
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1
Grammatikopoulos, Tassos, Hadzic, Nedim, Foskett, Pierre, Strautnieks, Sandra, Samyn, Marianne, Vara, Roshni, Dhawan, Anil, Hertecant, Jozef, Al Jasmi, Fatma, Rahman, Obydur, Deheragoda, Maesha, Bull, Laura N., Thompson, Richard J
Published in Hepatology communications (01.03.2022)
Published in Hepatology communications (01.03.2022)
Get full text
Journal Article
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
Get full text
Journal Article
PPCS, the biomarker with the best clinical utility for Niemann-Pick disease type B?
Cooper, James, Vara, Roshni, Ghosh, Arunabha, Jones, Simon, Broomfield, Alexander
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
Get full text
Journal Article
UK guideline on the transition and management of childhood liver diseases in adulthood
Joshi, Deepak, Nayagam, Jeremy, Clay, Lisa, Yerlett, Jenny, Claridge, Lee, Day, Jemma, Ferguson, James, Mckie, Paul, Vara, Roshni, Pargeter, Henry, Lockyer, Rachel, Jones, Rebecca, Heneghan, Michael, Samyn, Marianne
Published in Alimentary pharmacology & therapeutics (01.04.2024)
Published in Alimentary pharmacology & therapeutics (01.04.2024)
Get full text
Journal Article
Liver histology in children with glycogen storage disorders type VI and IX
Degrassi, Irene, Deheragoda, Maesha, Creegen, David, Mundy, Helen, Mustafa, Ahlam, Vara, Roshni, Hadzic, Nedim
Published in Digestive and liver disease (01.01.2021)
Published in Digestive and liver disease (01.01.2021)
Get full text
Journal Article
Liver Transplantation in Children With Propionic Acidemia: Medium‐Term Outcomes
Curnock, Richard, Heaton, Nigel D., Vilca‐Melendez, Hector, Dhawan, Anil, Hadzic, Nedim, Vara, Roshni
Published in Liver transplantation (01.03.2020)
Published in Liver transplantation (01.03.2020)
Get full text
Journal Article
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology
Hegarty, Robert, Gibson, Philippa, Sambrotta, Melissa, Strautnieks, Sandra, Foskett, Pierre, Ellard, Sian, Baptista, Julia, Lillis, Suzanne, Bansal, Sanjay, Vara, Roshni, Dhawan, Anil, Grammatikopoulos, Tassos, Thompson, Richard J.
Published in The Journal of pediatrics (01.09.2021)
Published in The Journal of pediatrics (01.09.2021)
Get full text
Journal Article
Wormian bones: thinking beyond osteogenesis imperfecta
Halligan, Rebecca Kylie, Royle, Leanne, Lloyd, Claire, Vara, Roshni, Cheung, Moira Shang-Mei
Published in Archives of disease in childhood (01.11.2021)
Published in Archives of disease in childhood (01.11.2021)
Get full text
Journal Article
Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
Spiekerkoetter, Ute, Couce, Maria L, Das, Anibh M, de Laet, Corinne, Dionisi-Vici, Carlo, Lund, Allan M, Schiff, Manuel, Spada, Marco, Sparve, Erik, Szamosi, Johan, Vara, Roshni, Rudebeck, Mattias
Published in The lancet. Diabetes & endocrinology (01.07.2021)
Published in The lancet. Diabetes & endocrinology (01.07.2021)
Get full text
Journal Article