The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening
Bernhardt, Isaac, Glamuzina, Emma, Ryder, Bryony, Knoll, Detlef, Heather, Natasha, De Hora, Mark, Webster, Dianne, Wilson, Callum
Published in JIMD reports (01.03.2023)
Published in JIMD reports (01.03.2023)
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Journal Article
Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations
Bernhardt, Isaac, Glamuzina, Emma, Dowsett, Leah K., Webster, Dianne, Knoll, Detlef, Carpenter, Kevin, Bennett, Michael J., Maeda, Michelle, Wilson, Callum
Published in JIMD reports (01.07.2022)
Published in JIMD reports (01.07.2022)
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Journal Article
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome
Henry, Asher, Bernhardt, Isaac, Hayes, Ian, Mitchelson, Bryan
Published in Clinical genetics (01.11.2022)
Published in Clinical genetics (01.11.2022)
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Journal Article
Exertional rhabdomyolysis following return to exercise after COVID-19 lockdown
Bernharrdt, Isaac, Ryder Bryony, Wilson, Callum
Published in New Zealand medical journal (04.02.2022)
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Published in New Zealand medical journal (04.02.2022)
Journal Article
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
Elkhateeb, Nour, Olivieri, Giorgia, Siri, Barbara, Boyd, Stewart, Stepien, Karolina M., Sharma, Reena, Morris, Andrew A. M., Hartley, Thomas, Crowther, Laura, Grunewald, Stephanie, Cleary, Maureen, Mundy, Helen, Chakrapani, Anupam, Lachmann, Robin, Murphy, Elaine, Santra, Saikat, Uudelepp, Mari‐Liis, Yeo, Mildrid, Bernhardt, Isaac, Sudakhar, Sniya, Chan, Alicia, Mills, Philippa, Ridout, Debora, Gissen, Paul, Dionisi‐Vici, Carlo, Baruteau, Julien
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
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Journal Article
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
Bernhardt, Isaac, Frajman, Leah E., Ryder, Bryony, Andersen, Erik, Wilson, Callum, McKeown, Colina, Anderson, Tim, Coman, David, Vincent, Andrea L., Buchanan, Christina, Roxburgh, Richard, Pitt, James, De Hora, Mark, Christodoulou, John, Thorburn, David R., Wilson, Francessa, Drake, Kylie M., Leask, Megan, Yardley, Anne-Marie, Merriman, Tony, Robertson, Stephen, Compton, Alison G., Glamuzina, Emma
Published in Molecular genetics and metabolism (01.07.2024)
Published in Molecular genetics and metabolism (01.07.2024)
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Journal Article