2025

• Rudaks, L., Stevanovski, I., Yeow, D., Reis, A., Chintalaphani, S., Cheong, P., Gamaarachchi, H., Worgan, L., Ahmad, K., Hayes, M., Fung, V., Tchan, M., Ng, K., Kennerson, M., Kumar, K., et al (2025). Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders. Annals of Clinical and Translational Neurology, 0, 1-10. [More Information]

2024

• Williams, L., Waller, S., Qiu, J., Innes, E., Elserafy, N., Procopis, P., Sampaio, H., Mahant, N., Tchan, M., Mohammad, S., Fung, V., et al (2024). DHDDS and NUS1: A Converging Pathway and Common Phenotype. Movement Disorders Clinical Practice, 11(1), 76-85. [More Information]
• Nicholls, K., Denaro, C., Tchan, M., Ellaway, C., Bratkovic, D., Campbell, S., Fookes, M., Thomas, M. (2024). Fabry-specific treatment in Australia: time to align eligibility criteria with international best practices. Internal Medicine Journal. [More Information]
• Fellner, A., Wali, G., Mahant, N., Grosz, B., Ellis, M., Narayanan, R., Ng, K., Davis, R., Tchan, M., Kotschet, K., et al (2024). Genome sequencing reanalysis increases the diagnostic yield in dystonia. Parkinsonism and Related Disorders, 124. [More Information]
• Mallawaarachchi, A., Boudville, N., Burke, J., Burnett, L., Casauria, S., Chadban, S., Chakera, A., Crafter, S., Dai, P., De Fazio, P., Tchan, M., McCarthy, H., Alexander, S., et al (2024). Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical Journal of the American Society of Nephrology, 19(7), 887-897. [More Information]
• Doshi, H., Vachharajani, H., Tchan, M., Nasreddine, M., Billmore, K. (2024). Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report. Anaesthesia and Intensive Care, 52(1), 64-68. [More Information]

2023

• Wasserstein, M., Lachmann, R., Hollak, C., Barbato, A., Gallagher, R., Giugliani, R., Guelbert, N., Hennermann, J., Ikezoe, T., Lidove, O., et al (2023). Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial. Orphanet Journal of Rare Diseases, 18(1). [More Information]
• Ham, K., Johnsen, R., Tchan, M., Wilton, S. (2023). Developing Therapeutic Splice-Correcting Antisense Oligomers for Adult-Onset Pompe Disease with c.-32-13T>G Mutation. Methods in Molecular Biology, (pp. 239-251). [More Information]
• Massey, S., Guo, Y., Riley, L., Van Bergen, N., Sandaradura, S., McCusker, E., Tchan, M., Thauvin-Robinet, C., Thomas, Q., Moreau, T., et al (2023). Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia. Neurology: Genetics, 9(1), e200051. [More Information]
• McLean, A., Tchan, M., Devery, S., Smyth, R., Shrestha, R., Kumar, K., Tomlinson, S., Tisch, S., Wu, K. (2023). Informing a value care model: lessons from an integrated adult neurogenomics clinic. Internal Medicine Journal, 53(12), 2198-2207. [More Information]
• Williams, L., Qiu, J., Tchan, M., Morris, J., Morales-Briceño, H., Fung, V. (2023). Seeing What Is Not There: Revisiting a Diagnostic Conundrum in the Clinic. Movement Disorders Clinical Practice, 10(S3), S54-S57. [More Information]
• Stepien, K., Langendonk, J., Dao, M., Gomes, D., Douillard, C., Filipsson, K., Glamuzina, E., Haverkamp, J., Langeveld, M., Lehman, A., et al (2023). The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey. Journal of Inherited Metabolic Disease. [More Information]
• Thompson, S., Hertzog, A., Selvanathan, A., Batten, K., Lewis, K., Nisbet, J., Mitchell, A., Dalkeith, T., Billmore, K., Moore, F., Tolun, A., Devanapalli, B., Rahman, Y., Tchan, M., Bhattacharya, K., et al (2023). Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases. Nutrients, 15(3). [More Information]

2022

• Grosz, B., Tisch, S., Tchan, M., Fung, V., Darveniza, P., Fellner, A., Kurian, M., McLean, A., Tomlinson, S., Smyth, R., Wu, K., Kennerson, M., Kumar, K., et al (2022). A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular Genetics & Genomic Medicine, 10(5), e1923-1-e1923-6. [More Information]
• Wasserstein, M., Lachmann, R., Hollak, C., Arash-Kaps, L., Barbato, A., Gallagher, R., Giugliani, R., Guelbert, N., Ikezoe, T., Lidove, O., et al (2022). A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results. Genetics in Medicine, 24(7), 1425-1436. [More Information]
• Martin, A., Ong, T., Briceno-Morales, H., Tchan, M., Fung, V. (2022). ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis? Movement Disorders Clinical Practice, 9(8), 1120-1123. [More Information]
• Zech, M., Kumar, K., Reining, S., Reunert, J., Tchan, M., Riley, L., Drew, A., Adam, R., Berutti, R., Biskup, S., Fung, V., et al (2022). Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement Disorders, 37(1), 137-147. [More Information]
• Stevanovski, I., Chintalaphani, S., Gamaarachchi, H., Ferguson, J., Pineda Gonzalez, S., Scriba, C., Tchan, M., Fung, V., Ng, K., Cortese, A., Dobson-Stone, C., Fitzpatrick, L., Halliday, G., Kennerson, M., Kumar, K., et al (2022). Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science Advances, 8(9), eabm5386. [More Information]
• Zada, M., Lo, Q., Trivedi, S., Harapoz, M., Boyd, A., Devine, K., Sadick, N., Tchan, M., Thomas, L. (2022). Electrocardiographic Characteristics and Their Correlation with Echocardiographic Alterations in Fabry Disease. Journal of Cardiovascular Development and Disease, 9(1), 11. [More Information]
• Beneru, D., Tchan, M., Billmore, K., Nayyar, R. (2022). Glycogen storage disease type IIIa in pregnant women: A guide to management. JIMD Reports, 63(3), 216-220. [More Information]
• Kline, B., Jaillard, S., Bell, K., Bakhshalizadeh, S., Robevska, G., van den Bergen, J., Dulon, J., Ayers, K., Christodoulou, J., Tchan, M., et al (2022). Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency. Genes, 13(11). [More Information]
• Waller, S., Morales-Briceno, H., Williams, L., Mohammad, S., Fellner, A., Kumar, K., Tchan, M., Fung, V. (2022). Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions. Movement Disorders Clinical Practice, 9(2), 240-244. [More Information]
• Bratkovic, D., Margvelashvili, L., Tchan, M., Nisbet, J., Smith, N. (2022). PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study. Metabolism: Clinical and Experimental, 128, 155116-1-155116-8. [More Information]

2021

• Zada, M., Lo, Q., Boyd, A., Bradley, S., Devine, K., Denaro, C., Sadick, N., Richards, D., Tchan, M., Thomas, L. (2021). Basal Segmental Longitudinal Strain: A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease. Journal of the American Society of Echocardiography, 34(4), 405-413.e2. [More Information]
• Hellewell, S., Welton, T., Eisenhuth, K., Tchan, M., Grieve, S. (2021). Diffusion kurtosis imaging detects subclinical white matter abnormalities in Phenylketonuria. NeuroImage: Clinical, 29, 102555-1-102555-9. [More Information]
• Mallawaarachchi, A., Lundie, B., Hort, Y., Schonrock, N., Senum, S., Gayevskiy, V., Minoche, A., Hollway, G., Ohnesorg, T., Hinchcliffe, M., Rangan, G., et al (2021). Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing. European Journal of Human Genetics, 29(5), 760-770. [More Information]
• Parayil Sankaran, B., Gupta, S., Tchan, M., Devanapalli, B., Rahman, Y., Procopis, P., Bhattacharya, K. (2021). GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome. Orphanet Journal of Rare Diseases, 16(1), 465. [More Information]
• Waddell, L., Bryen, S., Cummings, B., Bournazos, A., Evesson, F., Joshi, H., Marshall, J., Tukiainen, T., Valkanas, E., Weisburd, B., Sandaradura, S., O'Grady, G., Tchan, M., Oates, E., Ma, A., Wang, M., Clarke, N., Jones, K., Cooper, S., et al (2021). WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. Neurology: Genetics, 7(1), e554. [More Information]

2020

• Morales-Briceno, H., Mohammad, S., Post, B., Fois, A., Dale, R., Tchan, M., Fung, V. (2020). Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence. Brain, 143(3), 751-770. [More Information]
• van Rijt, W., Jager, E., Allersma, D., Aktu?lu Zeybek, A., Bhattacharya, K., Debray, F., Ellaway, C., Gautschi, M., Geraghty, M., Gil-Ortega, D., Tchan, M., et al (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in Medicine, 22(5), 908-916. [More Information]
• Tchan, M., Henderson, R., Kornberg, A., Kairaitis, K., Fuller, M., Davis, M., Ellaway, C., Reardon, K., Corbett, A., Needham, M., et al (2020). Is it Pompe Disease? Australian diagnostic considerations. Neuromuscular Disorders, 30(5), 389-399. [More Information]
• Cif, L., Demailly, D., Lin, J., Barwick, K., Sa, M., Abela, L., Malhotra, S., Chong, W., Steel, D., Sanchis-Juan, A., Kumar, K., Morales-Briceno, H., Tchan, M., Dale, R., Fung, V., Mohammad, S., et al (2020). KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain, 143(11), 3242-3261. [More Information]
• Augusto, J., Nordin, S., Vijapurapu, R., Baig, S., Bulluck, H., Castelletti, S., Alfarih, M., Knott, K., Captur, G., Kotecha, T., Kozor, R., et al (2020). Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease. Circulation: Cardiovascular Imaging, 13(3), 1-11. [More Information]
• Aung-Htut, M., Ham, K., Tchan, M., Fletcher, S., Wilton, S. (2020). Novel mutations found in individuals with adult-onset pompe disease. Genes, 11(2), 135. [More Information]
• Kumar, K., Cortese, A., Tomlinson, S., Efthymiou, S., Ellis, M., Zhu, D., Stoll, M., Dominik, N., Tisch, S., Tchan, M., Wu, K., Hawke, S., Cremer, P., Ng, K., Nicholson, G., Kennerson, M., et al (2020). RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome. Brain, 143(10), e82. [More Information]
• Aung-Htut, M., Ham, K., Tchan, M., Johnsen, R., Schnell, F., Fletcher, S., Wilton, S. (2020). Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease. Scientific Reports, 10(1), 6702. [More Information]
• Martin, A., Morales-Briceno, H., Tchan, M., Fung, V. (2020). The Head Retraction Reflex in Niemann-Pick Type C: A Novel Diagnostic Clue. Movement Disorders Clinical Practice, 7(5), 543-547. [More Information]
• Bhattacharya, K., Matar, W., Tolun, A., Devanapalli, B., Thompson, S., Dalkeith, T., Lichkus, K., Tchan, M. (2020). The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders. Orphanet Journal of Rare Diseases, 15(1), 53. [More Information]
• Kim, A., Hakeem, R., Abdullah, A., Hooper, A., Tchan, M., Alahakoon, T., Girgis, C. (2020). Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation. Endocrinology, Diabetes & Metabolism Case Reports, 2020 (1), 1-7. [More Information]

2019

• Vijapurapu, R., Kozor, R., Hughes, D., Woolfson, P., Jovanovic, A., Deegan, P., Rusk, R., Figtree, G., Tchan, M., Whalley, D., et al (2019). A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice. Trials, 20(1), 1-10. [More Information]
• Li, J., Shingde, M., Nankivell, B., Tchan, M., Bose, B., Chapman, J., Kable, K., Kim, S., Vucak-Dzumhur, M., Wong, G., Rangan, G. (2019). Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD. Kidney International Reports, 4(8), 1161-1170. [More Information]
• Vijapurapu, R., Nordin, S., Baig, S., Liu, B., Rosmini, S., Augusto, J., Tchan, M., Hughes, D., Geberhiwot, T., Moon, J., Kozor, R., et al (2019). Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease. Heart, 105(6), 470-476. [More Information]
• Hannah-Shmouni, F., Stratakis, C., Sechi, A., Langeveld, M., Hiwot, T., Tchan, M., Mochel, F., Lynd, L., Sirrs, S. (2019). Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs. The Lancet Diabetes & Endocrinology, 7(2), 82-84. [More Information]
• Kumar, K., Davis, R., Tchan, M., Wali, G., Mahant, N., Ng, K., Kotschet, K., Siow, S., Gu, J., Walls, Z., Kang, C., Wali, G., Yiannikas, C., Chang, F., Morales-Briceno, H., Fung, V., Sue, C., et al (2019). Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. Parkinsonism and Related Disorders, 69, 111-118. [More Information]

2018

• Prasad, R., Estrella, J., Christodoulou, J., McKellar, G., Tchan, M. (2018). A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy. JIMD Reports, 42, 5-8. [More Information]
• Nordin, S., Kozor, R., Baig, S., Abdel-Gadir, A., Medina-Menacho, K., Rosmini, S., Captur, G., Tchan, M., Geberhiwot, T., Murphy, E., et al (2018). Cardiac phenotype of prehypertrophic fabry disease. Circulation: Cardiovascular Imaging, 11(6), 1-11. [More Information]
• Tchan, M. (2018). Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism. Reviews in Endocrine & Metabolic Disorders, 19(1), 69-79. [More Information]
• Brown, J., Tchan, M., Nayyar, R. (2018). Maple syrup urine disease: tailoring a plan for pregnancy. The Journal of Maternal-Fetal and Neonatal Medicine, 31(12), 1663-1666. [More Information]
• White, A., Tchan, M. (2018). Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion. JIMD Reports, 40, 7-9. [More Information]
• McMillan, H., Telegrafi, A., Singleton, A., Cho, M., Lelli, D., Lynn, F., Griffin, J., Asamoah, A., Rinne, T., Erasmus, C., Tchan, M., et al (2018). Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet Journal of Rare Diseases, 13(1), 86. [More Information]

2017

• Bigot, A., Tchan, M., Thoreau, B., Blasco, H., Maillot, F. (2017). Liver involvement in urea cycle disorders: a review of the literature. Journal of Inherited Metabolic Disease, 40(6), 757-769. [More Information]
• Bigot, A., Brunault, P., Lavigne, C., Feillet, F., Odent, S., Kaphan, E., Thauvin, C., Leguy, V., Broue, P., Tchan, M., et al (2017). Psychiatric adult-onset of urea cycle disorders: A case-series. Molecular Genetics and Metabolism Reports, 12, 103-109. [More Information]

2016

• Horovitz, D., Acosta, A., Giugliani, R., Hlavata, A., Hlavata, K., Tchan, M., Lopes Barth, A., Cardoso, L., Embirucu de Araujo Leao, E., Esposito, A., et al (2016). Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: A multinational, retrospective, chart review case series. Orphanet Journal of Rare Diseases, 11(1), 1-8. [More Information]
• Kozor, R., Grieve, S., Tchan, M., Callaghan, F., Hamilton-Craig, C., Denaro, C., Moon, J., Figtree, G. (2016). Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR. Heart, 102(4), 298-302. [More Information]
• Jaure, A., Tunnicliffe, D., Lopez-Vargas, P., Mallett, A., Patel, C., Savige, J., Campbell, K., Patel, M., Tchan, M., Alexander, S., Lee, V., Craig, J., Rangan, G., et al (2016). Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease. Nephrology, 21(2), 122-132. [More Information]
• Rangan, G., Alexander, S., Campbell, K., Dexter, M., Lee, V., Lopez-Vargas, P., Mai, J., Mallett, A., Patel, C., Patel, M., Tchan, M., Jaure, A., Tunnicliffe, D., et al (2016). KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease. Nephrology, 21(8), 705-716. [More Information]
• Rangan, G., Tchan, M., Jaure, A., Wong, A., Nankivell (Nankievell), B. (2016). Recent advances in autosomal-dominant polycystic kidney disease. Internal Medicine Journal, 46(8), 883-892. [More Information]
• Sirrs, S., Hollak, C., Merkel, M., Sechi, A., Glamuzina, E., Janssen, M., Lachmann, R., Langendonk, J., Scarpelli, M., Ben Omran, T., Tchan, M., et al (2016). The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke and V. Peters (Eds.), JIMD Reports, (pp. 85-91). Berlin: Springer-Verlag. [More Information]

2015

• Kozor, R., Callaghan, F., Tchan, M., Hamilton-Craig, C., Figtree, G., Grieve, S. (2015). A disproportionate contribution of papillary muscles and trabeculations to total left ventricular mass makes choice of cardiovascular magnetic resonance analysis technique critical in Fabry disease. Journal of Cardiovascular Magnetic Resonance, 17(1), 1-7. [More Information]
• Qian, P., Ross, D., Tchan, M., Sadick, N. (2015). A patient with recurrent disabling atrial fibrillation and Fabry cardiomyopathy successfully treated with single ring pulmonary vein isolation. International Journal of Cardiology, 182C, 375-376. [More Information]
• Alexander, S., Rangan, G., Tchan, M., McCarthy, W., Mallett, A., Patel, C., Maier, A., McGaughran, J., Gabbett, M., Takasato, M., et al (2015). A protocol for the identification and validation of novel genetic causes of kidney disease. BMC Nephrology, 16(1), 152. [More Information]
• Rangan, G., Lopez-Vargas, P., Nankivell (Nankievell), B., Tchan, M., Jaure, A., Tunnicliffe, D., Savige, J. (2015). Autosomal Dominant Polycystic Kidney Disease: A Path Forward. Seminars in Nephrology, 35(6), 524-537. [More Information]
• Tchan, M., Savige, J., Patel, C., Mallett, A., Jaure, A., Tunnicliffe, D., Rangan, G. (2015). KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis. Seminars in Nephrology, 35(6), 545-549.e2. [More Information]
• Patel, C., Tchan, M., Savige, J., Mallett, A., Jaure, A., Tunnicliffe, D., Rangan, G. (2015). KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling. Seminars in Nephrology, 35(6), 550-556.e1. [More Information]
• Blair, N., Cremer, P., Tchan, M. (2015). Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults. Practical Neurology, 15(1), 45-48. [More Information]

2014

• Sigmundsdottir, L., Tchan, M., Knopman, A., Menzies, G., Batchelor, J., Sillence, D. (2014). Cognitive and Psychological Functioning in Fabry Disease. Archives of Clinical Neuropsychology, 29(7), 642-650. [More Information]
• Estrella, J., Wilcken, B., Carpenter, K., Bhattacharya, K., Tchan, M., Wiley, V. (2014). Expanded newborn screening in New South Wales: missed cases. Journal of Inherited Metabolic Disease, 37(6), 881-887. [More Information]
• Estrella, J., Yee, G., Wilcken, B., Tchan, M., Talbot, M. (2014). Hyperammonemic encephalopathy complicating bariatric surgery: A case study and review of the literature. Surgery for Obesity and Related Diseases, 10(3), e35-e38. [More Information]
• Sadick, V., Fietz, M., Tchan, M., Kovoor, P., Thomas, L., Sadick, N. (2014). Klinefelter Syndrome with Fabry Disease - a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation. Heart, Lung, and Circulation, 23(12), 1149-1152. [More Information]
• Trakadis, Y., Alfares, A., Bodamer, O., Buyukavici, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Tchan, M., et al (2014). Update on transcobalamin deficiency: clinical presentation, treatment and outcome. Journal of Inherited Metabolic Disease, 37(3), 461-473. [More Information]

2013

• Boyd, A., Lo, Q., Devine, K., Tchan, M., Sillence, D., Sadick, N., Richards, D., Thomas, L. (2013). Left atrial enlargement and reduced atrial compliance occurs early in fabry cardiomyopathy. Journal of the American Society of Echocardiography, 26(12), 1415-1423. [More Information]
• Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases, 8(1), 1-11. [More Information]
• Tchan, M., Westbrook, M., Wilcox, G., Cutler, R., Smith, N., Penman, R., Strauss, B., Wilcken, B. (2013). The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients. JIMD Reports, 10, 113-117. [More Information]
• Tchan, M., Wilcken, B., Christodoulou, J. (2013). The mild form of menkes disease: a 34 year progress report on the original case. JIMD Reports, 9, 81-84. [More Information]

2012

• Cheung, R., Sillence, D., Tchan, M. (2012). Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2012/3, (pp. 101-105). New York: Springer. [More Information]
• Cho, Y., Tchan, M., Roy, B., Halliday, R., Wilson, M., Dutt, S., Siew, S., Munns, C., Howard, N. (2012). Recombinant Parathyroid Hormone Therapy for Severe Neonatal Hypoparathyroidism. The Journal of Pediatrics, 160(2), 345-348. [More Information]
• Geevasinga, N., Tchan, M., Sillence, D., Vucic, S. (2012). Upregulation of inward rectifying currents and Fabry disease neuropathy. Journal of the Peripheral Nervous System, 17(4), 399-406. [More Information]

2011

• Tchan, M., Sillence, D. (2011). Fabry disease and Factor V Leiden: a potent vascular risk combination. Internal Medicine Journal, 41(5), 422-426. [More Information]
• Tchan, M., Graf, N., Sillence, D. (2011). Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie). Journal of Inherited Metabolic Disease, 34(2), 547-548. [More Information]
• Tchan, M., Sillence, D., Devine, K. (2011). Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase. JIMD Reports, (pp. 57-64). Berlin: Springer Verlag. [More Information]

2009

• Tchan, M., Sillence, D. (2009). Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. Journal of Intellectual and Developmental Disability, 34(3), 275-9. [More Information]
• Jenkins, Z., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., Thaller, C., Hing, A., Porteous, M., Ades, L., Tchan, M., et al (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. [More Information]

2008

• Tchan, M., George, M., Thomas, M. (2008). Metastatic prostate cancer mimicking primary osteosarcoma of the jaw: an infrequent clinical case. Southern Medical Journal, 101(6), 657-659. [More Information]

2001

• Tchan, M., Weiss, A. (2001). Asn78 and His81 form a destabilizing locus within the Max HLH-LZ homodimer. FEBS Letters, 509, 177-180.