Publications for Michel Tchan
Publications for Michel Tchan
2016
Horovitz, D., Acosta, A., Giugliani, R., Hlavatá,
A., Hlavatá, K., Tchan, M., Lopes Barth, A.,
Cardoso, L., Embiruçu De Araújo Leão, 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. <a
href="http://dx.doi.org/10.1186/s13023-016-043
7-8">[More Information]</a>
successfully treated with single ring pulmonary
vein isolation. International Journal of
Cardiology, 182C, 375-376. <a
href="http://dx.doi.org/10.1016/j.ijcard.2015.01.
001">[More Information]</a>
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), 1-10. <a
href="http://dx.doi.org/10.1186/s12882-015-014
8-8">[More Information]</a>
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. E-Heart, 102(4),
298-302. <a
href="http://dx.doi.org/10.1136/heartjnl-2015-30
8494">[More Information]</a>
Rangan, G., Lopez-Vargas, P., Nankivell
(Nankievell), B., Tchan, M., Tong, A.,
Tunnicliffe, D., Savige, J. (2015). Autosomal
Dominant Polycystic Kidney Disease: A Path
Forward. Seminars in Nephrology, 35(6),
524-537. <a
href="http://dx.doi.org/10.1016/j.semnephrol.201
5.10.002">[More Information]</a>
Tong, 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. <a
href="http://dx.doi.org/10.1111/nep.12579">[Mo
re Information]</a>
Tchan, M., Savige, J., Patel, C., Mallett, A.,
Tong, 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. <a
href="http://dx.doi.org/10.1016/j.semnephrol.201
5.10.007">[More Information]</a>
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 Volume 27, (pp. 85-91). Germany:
Springer. <a
href="http://dx.doi.org/10.1007/8904_2015_435"
>[More Information]</a>
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. <a
href="http://dx.doi.org/10.1186/s12968-015-011
4-4">[More Information]</a>
Qian, P., Ross, D., Tchan, M., Sadick, N. (2015).
A patient with recurrent disabling atrial
fibrillation and Fabry cardiomyopathy
Patel, C., Tchan, M., Savige, J., Mallett, A.,
Tong, 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. <a
href="http://dx.doi.org/10.1016/j.semnephrol.201
5.10.003">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1136/practneurol-2014
-000916">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1093/arclin/acu047">[
More Information]</a>
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 (JIMD), 37(6), 881-887. <a
href="http://dx.doi.org/10.1007/s10545-014-972
Publications for Michel Tchan
7-2">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.soard.2013.10.0
20">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.hlc.2014.07.05
6">[More Information]</a>
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 (JIMD), 37(3), 461-473. <a
href="http://dx.doi.org/10.1007/s10545-013-966
4-5">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.echo.2013.08.0
24">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1186/1750-1172-8-19
3">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1007/8904_2013_212"
>[More Information]</a>
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. <a
href="http://dx.doi.org/10.1007/8904_2012_183"
>[More Information]</a>
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.
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. <a
href="http://dx.doi.org/10.1016/j.jpeds.2011.09.0
22">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1111/j.1529-8027.201
2.00438.x">[More Information]</a>
2011
Tchan, M., Sillence, D. (2011). Fabry disease
and Factor V Leiden: a potent vascular risk
combination. Internal Medicine Journal, 41(5),
422-426. <a
href="http://dx.doi.org/10.1111/j.1445-5994.201
1.02483.x">[More Information]</a>
Tchan, M., George, M., Thomas, M. (2011).
Metastatic prostate cancer mimicking primary
osteosarcoma of the jaw: an infrequent clinical
case. Southern Medical Journal, 101(6),
657-659. <a
href="http://dx.doi.org/10.1097/SMJ.0b013e318
172f6dc">[More Information]</a>
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 (JIMD),
34(2), 547-548. <a
href="http://dx.doi.org/10.1007/s10545-010-927
3-5">[More Information]</a>
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.
2009
Tchan, M., Sillence, D. (2009). Extrapyramidal
symptoms and medication use in
Mucopolysaccharidosis type III. Journal of
Publications for Michel Tchan
Intellectual and Developmental Disability, 34(3),
275-9. <a
href="http://dx.doi.org/10.1080/1366825090307
0891">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1038/ng.270">[More
Information]</a>
2001
Tchan, M., Weiss, A. (2001). Asn78 and His81
form a destabilizing locus within the Max
HLH-LZ homodimer. FEBS Letters, 509,
177-180.