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2022 Journal Article Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisationHuynh, Tony, Greaves, Ronda, Mawad, Nazha, Greed, Lawrence, Wotton, Tiffany, Wiley, Veronica, Ranieri, Enzo, Rankin, Wayne, Ungerer, Jacobus, Price, Ricky, Webster, Dianne and Heather, Natasha (2022). Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation. Clinical Chemistry and Laboratory Medicine (CCLM), 60 (10), 1551-1561. doi: 10.1515/cclm-2022-0403 |
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2022 Journal Article Long-term efficacy of T3 analogue triac in children and adults with MCT8 deficiency: a real-life retrospective cohort studyvan Geest, Ferdy S., Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D., Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R., George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony ... Visser, W Edward (2022). Long-term efficacy of T3 analogue triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study. The Journal of Clinical Endocrinology and Metabolism, 107 (3), e1136-e1147. doi: 10.1210/clinem/dgab750 |
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2021 Journal Article Pre-analytical mysteries: a case of severe hypervitaminosis D and mild hypercalcaemiaWhittle, Emma, de Waal, Elzahn, Huynh, Tony, Treacy, Oliver and Morton, Adam (2021). Pre-analytical mysteries: a case of severe hypervitaminosis D and mild hypercalcaemia. Biochemia Medica, 31 (1) 011001, 011001-155. doi: 10.11613/bm.2021.011001 |
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2020 Journal Article Challenges of managing congenital hyperinsulinism in remote Aboriginal Australian communitiesMusthaffa, Yassmin, Papadimos, Emily R., Fairchild, Jan, Titmuss, Angela, Corpus, Sumaria, Huynh, Tony and Conwell, Louise S. (2020). Challenges of managing congenital hyperinsulinism in remote Aboriginal Australian communities. Journal of Paediatrics and Child Health, 57 (5) jpc.14984, 727-731. doi: 10.1111/jpc.14984 |
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2020 Journal Article A Rare and Unusual Cause of Unilateral Ureteric Obstruction in a ChildFowler, Dallas, Irving, Helen, Borzi, Peter, Trnka, Peter and Huynh, Tony (2020). A Rare and Unusual Cause of Unilateral Ureteric Obstruction in a Child. Clinical Chemistry, 66 (8), 1006-1009. doi: 10.1093/clinchem/hvaa059 |
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2020 Journal Article Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyGroeneweg, Stefan, van Geest, Ferdy S., Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautem P., Armour, Christine M., Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S., van Beynum, Ingrid M., Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F. M., Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H. G., Dubey, Rachana, Enderli, Anina ... Visser, W. Edward (2020). Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. The Lancet Diabetes and Endocrinology, 8 (7), 594-605. doi: 10.1016/S2213-8587(20)30153-4 |
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2020 Journal Article Clinical and laboratory aspects of insulin autoantibody-mediated glycaemic dysregulation and hyperinsulinaemic hypoglycaemia: insulin autoimmune syndrome and exogenous insulin antibody syndromeHuynh, Tony (2020). Clinical and laboratory aspects of insulin autoantibody-mediated glycaemic dysregulation and hyperinsulinaemic hypoglycaemia: insulin autoimmune syndrome and exogenous insulin antibody syndrome. Clinical Biochemist Reviews, 41 (3), 93-102. doi: 10.33176/AACB-20-00008 |
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2019 Journal Article An unusual cause of metabolic alkalosis and hypocalcemia in childhoodHuynh, Tony and Wilgen, Urs (2019). An unusual cause of metabolic alkalosis and hypocalcemia in childhood. Clinical Chemistry, 65 (4), 514-517. doi: 10.1373/clinchem.2018.287136 |
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2018 Journal Article A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case reportWatanabe, Y., Sharwood, E., Goodwin, B., Creech, M. K., Hassan, H. Y., Netea, M. G., Jaeger, M., Dumitrescu, A., Refetoff, S., Huynh, T. and Weiss, R. E. (2018). A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Medical Genetics, 19 (1) 69, 69. doi: 10.1186/s12881-018-0588-7 |
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2018 Journal Article Immunoassay interference secondary to therapeutic high-dose biotin: a paediatric case reportEvans, Natalie, Yates, Jason, Tobin, Jacinta, McGill, Jim and Huynh, Tony (2018). Immunoassay interference secondary to therapeutic high-dose biotin: a paediatric case report. Journal of Paediatrics and Child Health, 54 (5), 572-575. doi: 10.1111/jpc.13857 |
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2018 Journal Article Therapeutic plasma exchange normalizes insulin-mediated response in a child with type 1 diabetes and insulin autoimmune syndromeSharwood, Erin F., Hughes, Ian P., Pretorius, Carel J., Trnka, Peter, Peake, Jane and Huynh, Tony (2018). Therapeutic plasma exchange normalizes insulin-mediated response in a child with type 1 diabetes and insulin autoimmune syndrome. Pediatric Diabetes, 48 (1), S89-179. doi: 10.1111/pedi.12522 |
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2018 Journal Article Diabetes in a child on growth hormone therapy: questionsAldridge, Melanie, Huynh, Tony, Prado, Jose and McTaggart, Steven J. (2018). Diabetes in a child on growth hormone therapy: questions. Pediatric Nephrology, 33 (1), 77-78. doi: 10.1007/s00467-017-3645-0 |
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2017 Journal Article Diabetes in a child on growth hormone therapy: AnswersAldridge, Melanie, Huynh, Tony, Prado, Jose and McTaggart, Steven J. (2017). Diabetes in a child on growth hormone therapy: Answers. Pediatric Nephrology, 33 (1), 79-80. doi: 10.1007/s00467-017-3651-2 |
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2017 Journal Article Virilisation in siblings secondary to transdermal ‘bioidentical’ testosterone exposureHuynh, Tony and Stewart, Catherine I. (2017). Virilisation in siblings secondary to transdermal ‘bioidentical’ testosterone exposure. Journal of Paediatrics and Child Health, 53 (3), 301-305. doi: 10.1111/jpc.13466 |
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2016 Journal Article Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortEggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A., Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M., Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa ... Sinclair, Andrew H. (2016). Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology, 17 (1) 243, 243. doi: 10.1186/s13059-016-1105-y |
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2013 Journal Article Selective modulation through the glucocorticoid receptor ameliorates muscle pathology in mdx miceHuynh, Tony, Uaesoontrachoon, Kitipong, Quinn, James L., Tatem, Kathleen S., Heier, Christopher R., Van Der Meulen, Jack H., Yu, Qing, Harris, Mark, Nolan, Christopher J., Haegeman, Guy, Grounds, Miranda D. and Nagaraju, Kanneboyina (2013). Selective modulation through the glucocorticoid receptor ameliorates muscle pathology in mdx mice. Journal of Pathology, 231 (2), 223-235. doi: 10.1002/path.4231 |
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2013 Journal Article Omigapil Treatment Decreases Fibrosis and Improves Respiratory Rate in dy2J Mouse Model of Congenital Muscular DystrophyYu, Qing, Sali, Arpana, van der Meulen, Jack, Creeden, Brittany K., Gordish-Dressman, Heather, Rutkowski, Anne, Rayavarapu, Sree, Uaesoontrachoon, Kitipong, Huynh, Tony, Nagaraju, Kanneboyina and Spurney, Christopher F. (2013). Omigapil Treatment Decreases Fibrosis and Improves Respiratory Rate in dy2J Mouse Model of Congenital Muscular Dystrophy. PLoS One, 8 (6) e65468, e65468.1-e65468.8. doi: 10.1371/journal.pone.0065468 |
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2013 Journal Article VBP15, a Glucocorticoid Analogue, Is Effective at Reducing Allergic Lung Inflammation in MiceDamsker, Jesse M., Dillingham, Blythe C., Rose, Mary C., Balsley, Molly A., Heier, Christopher R., Watson, Alan M., Stemmy, Erik J., Jurjus, Roslyn A., Huynh, Tony, Tatem, Kathleen, Uaesoontrachoon, Kitipong, Berry, Dana M., Benton, Angela S., Freishtat, Robert J., Hoffman, Eric P., McCall, John M., Gordish-Dressman, Heather, Constant, Stephanie L., Reeves, Erica K. M. and Nagaraju, Kanneboyina (2013). VBP15, a Glucocorticoid Analogue, Is Effective at Reducing Allergic Lung Inflammation in Mice. PLoS One, 8 (5) e63871, e63871.1-e63871.9. doi: 10.1371/journal.pone.0063871 |
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2013 Journal Article Urine metabonomic profiling of a female adolescent with PIT-1 mutation before and during growth hormone therapy: insights into the metabolic effects of growth hormoneAbd Rahman, Shaffinaz, Schirra, Horst Joachim, Lichanska, Agnieszka M., Huynh, Tony and Leong, Gary M. (2013). Urine metabonomic profiling of a female adolescent with PIT-1 mutation before and during growth hormone therapy: insights into the metabolic effects of growth hormone. Growth Hormone & IGF Research, 23 (1-2), 29-36. doi: 10.1016/j.ghir.2012.12.001 |
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2013 Journal Article VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effectsHeier, Christopher R., Damsker, Jesse M., Yu, Qing, Dillingham, Blythe C., Huynh, Tony, Van der Meulen, Jack H., Sali, Arpana, Miller, Brittany K., Phadke, Aditi, Scheffer, Luana, Quinn, James, Tatem, Kathleen, Jordan, Sarah, Dadgar, Sherry, Rodriguez, Olga C., Albanese, Chris, Calhoun, Michael, Gordish-Dressman, Heather, Jaiswal, Jyoti K., Connor, Edward M., Mccall, John M., Hoffman, Eric P., Reeves, Eric K. M. and Nagaraju, Kanneboyina (2013). VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects. EMBO Molecular Medicine, 5 (10), 1569-1585. doi: 10.1002/emmm.201302621 |
