Tchan M - Search Results

1

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.

Aung-Htut MT, Ham KA, Tchan M, Johnsen R, Schnell FJ, Fletcher S, Wilton SD. Aung-Htut MT, et al. Among authors: tchan m. Sci Rep. 2020 Apr 21;10(1):6702. doi: 10.1038/s41598-020-63461-2. Sci Rep. 2020. PMID: 32317649 Free PMC article.

2

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

Aung-Htut MT, Ham KA, Tchan MC, Fletcher S, Wilton SD. Aung-Htut MT, et al. Genes (Basel). 2020 Jan 28;11(2):135. doi: 10.3390/genes11020135. Genes (Basel). 2020. PMID: 32012848 Free PMC article.

3

Is it Pompe Disease? Australian diagnostic considerations.

Tchan M, Henderson R, Kornberg A, Kairaitis K, Fuller M, Davis M, Ellaway C, Reardon K, Corbett A, Needham M, McKelvie P. Tchan M, et al. Neuromuscul Disord. 2020 May;30(5):389-399. doi: 10.1016/j.nmd.2020.03.007. Epub 2020 Apr 16. Neuromuscul Disord. 2020. PMID: 32418839

4

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.

Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Schoser B, et al. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Lancet Neurol. 2021. PMID: 34800400 Clinical Trial.

5

The mild form of menkes disease: a 34 year progress report on the original case.

Tchan MC, Wilcken B, Christodoulou J. Tchan MC, et al. JIMD Rep. 2013;9:81-84. doi: 10.1007/8904_2012_183. Epub 2012 Oct 13. JIMD Rep. 2013. PMID: 23430551 Free PMC article.

6

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.

Tchan MC, Devine KT, Sillence DO. Tchan MC, et al. JIMD Rep. 2011;1:57-64. doi: 10.1007/8904_2011_17. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430829 Free PMC article.

7

The management of pregnancy in maple syrup urine disease: experience with two patients.

Tchan M, Westbrook M, Wilcox G, Cutler R, Smith N, Penman R, Strauss BJ, Wilcken B. Tchan M, et al. JIMD Rep. 2013;10:113-7. doi: 10.1007/8904_2013_212. Epub 2013 Feb 14. JIMD Rep. 2013. PMID: 23430812 Free PMC article.

8

Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.

Cheung R, Sillence DO, Tchan MC. Cheung R, et al. Among authors: tchan mc. JIMD Rep. 2012;6:101-5. doi: 10.1007/8904_2011_123. Epub 2012 Feb 1. JIMD Rep. 2012. PMID: 23430946 Free PMC article.

9

Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.

McConnell EJ, Every J, Tchan M, Kozor R. McConnell EJ, et al. Among authors: tchan m. Eur Heart J Case Rep. 2018 Dec 7;2(4):yty122. doi: 10.1093/ehjcr/yty122. eCollection 2018 Dec. Eur Heart J Case Rep. 2018. PMID: 31020198 Free PMC article.

10

Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.

Li J, Shingde M, Nankivell BJ, Tchan MC, Bose B, Chapman JR, Kable K, Kim SK, Vucak-Dzumhur M, Wong G, Rangan GK. Li J, et al. Among authors: tchan mc. Kidney Int Rep. 2019 May 7;4(8):1161-1170. doi: 10.1016/j.ekir.2019.04.021. eCollection 2019 Aug. Kidney Int Rep. 2019. PMID: 31440706 Free PMC article. No abstract available.

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