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2022 Journal Article An unusual presentation of autoimmune primary adrenal insufficiencyHobbs, Annabelle, Odutolu, Oluwatoyin and Huynh, Tony (2022). An unusual presentation of autoimmune primary adrenal insufficiency. Clinical Chemistry, 68 (11), 1374-1378. doi: 10.1093/clinchem/hvac165 |
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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 Conference Publication Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12Conwell, Louise S., Harraway, James R., Williams, Mark G., Joy, Christopher, Scurry, Bonnie M., Lee, Kevin, McBride, Craig A., Choo, Kelvin, Huynh, Tony, Ng, Carolyn G.L. and Flanagan, Sarah E. (2019). Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12. The European Society of Paediatric Endocrinology Annual Meeting, Vienna, Austria, 19-21 September 2019. |
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2019 Conference Publication Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12Conwell, Louise S., Harraway, James R., Williams, Mark G., Joy, Christopher, Scurry, Bonnie M., Lee, Kevin, McBride, Craig A., Choo, Kelvin, Huynh, Tony, Ng, Carolyn G.L. and Flanagan, Sarah E. (2019). Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional funding of pancreatic mosaicism for trisomy 12. Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia Conference, Philadelphia, PA United States, 5-6 September 2019. |
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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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2018 Conference Publication Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional finding of pancreatic mosaicism for trisomy 12Conwell, Louise S., Harroway, James, Williams, Mark, Joy, Christopher, Scurry, Bonnie, Lee, Kevin, McBride, Craig, Choo, Kelvin, Huynh, Tony and Ng, Carolyn G. L. (2018). Congenital hyperinsulinism due to pancreatic mosaicism for paternal uniparental disomy of all chromosome 11, with the additional finding of pancreatic mosaicism for trisomy 12. Australasian Paediatric Endocrine Group Annual Scientific Meetings, Newcastle, Australia, July 2018. |
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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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2017 Conference Publication Idiopathic Ductopaenia in a Paediatric Patient: A Case Report and Interesting Clinical BiochemistryRuddell, Richard G., Burgess, Christopher, Huynh, Tony, Conwell, Louise S., Balouch, Fariha, Burke, Matthew and Pretorius, Carel (2017). Idiopathic Ductopaenia in a Paediatric Patient: A Case Report and Interesting Clinical Biochemistry. Royal College of Pathology Australia Update, Sydney, NSW, Australia, 24 – 26 February 2017. |
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2017 Conference Publication Idiopathic ductopaenia in a paediatric patient: a case report and interesting clinical biochemistryRuddell, Richard G., Burgess, Christopher, Huynh, Tony, Conwell, Louise S., Balouch, Fariha, Burke, Matthew and Pretorius, Carel (2017). Idiopathic ductopaenia in a paediatric patient: a case report and interesting clinical biochemistry. Clinical Lipidology (3rd World Congress), Brisbane, QLD, Australia, unknown. |
