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Items: 1 to 50 of 57

1.

Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation.

Kim AS, Hakeem R, Abdullah A, Hooper AJ, Tchan MC, Alahakoon TI, Girgis CM.

Endocrinol Diabetes Metab Case Rep. 2020 Mar 13;2020. pii: EDM190165. doi: 10.1530/EDM-19-0165. [Epub ahead of print]

2.

Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease.

Augusto JB, Nordin S, Vijapurapu R, Baig S, Bulluck H, Castelletti S, Alfarih M, Knott K, Captur G, Kotecha T, Ramaswami U, Tchan M, Geberhiwot T, Fontana M, Steeds RP, Hughes D, Kozor R, Moon JC.

Circ Cardiovasc Imaging. 2020 Mar;13(3):e010171. doi: 10.1161/CIRCIMAGING.119.010171. Epub 2020 Mar 2.

PMID:
32114828
3.

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.

Bhattacharya K, Matar W, Tolun AA, Devanapalli B, Thompson S, Dalkeith T, Lichkus K, Tchan M.

Orphanet J Rare Dis. 2020 Feb 18;15(1):53. doi: 10.1186/s13023-020-1316-x.

4.

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

Aung-Htut MT, Ham KA, Tchan MC, Fletcher S, Wilton SD.

Genes (Basel). 2020 Jan 28;11(2). pii: E135. doi: 10.3390/genes11020135.

5.

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ.

Genet Med. 2020 Jan 6. doi: 10.1038/s41436-019-0739-z. [Epub ahead of print]

6.

Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy.

Nordin S, Kozor R, Vijapurapu R, Augusto JB, Knott KD, Captur G, Treibel TA, Ramaswami U, Tchan M, Geberhiwot T, Steeds RP, Hughes DA, Moon JC.

Circ Cardiovasc Imaging. 2019 Dec;12(12):e009430. doi: 10.1161/CIRCIMAGING.119.009430. Epub 2019 Dec 12.

7.

Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.

Morales-Briceño H, Mohammad SS, Post B, Fois AF, Dale RC, Tchan M, Fung VSC.

Brain. 2020 Mar 1;143(3):751-770. doi: 10.1093/brain/awz345.

PMID:
31800013
8.

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM.

Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7.

9.

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.

Kidney Int Rep. 2019 May 7;4(8):1161-1170. doi: 10.1016/j.ekir.2019.04.021. eCollection 2019 Aug. No abstract available.

10.

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.

Vijapurapu R, Kozor R, Hughes DA, Woolfson P, Jovanovic A, Deegan P, Rusk R, Figtree GA, Tchan M, Whalley D, Kotecha D, Leyva F, Moon J, Geberhiwot T, Steeds RP.

Trials. 2019 May 31;20(1):314. doi: 10.1186/s13063-019-3425-1.

11.

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

McConnell EJ, Every J, Tchan M, Kozor R.

Eur Heart J Case Rep. 2018 Dec 7;2(4):yty122. doi: 10.1093/ehjcr/yty122. eCollection 2018 Dec.

12.

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.

Hannah-Shmouni F, Stratakis CA, Sechi A, Langeveld M, Hiwot TG, Tchan MC, Mochel F, Lynd LD, Sirrs S.

Lancet Diabetes Endocrinol. 2019 Feb;7(2):82-84. doi: 10.1016/S2213-8587(18)30369-3. No abstract available.

PMID:
30683215
13.

Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease.

Vijapurapu R, Nordin S, Baig S, Liu B, Rosmini S, Augusto J, Tchan M, Hughes DA, Geberhiwot T, Moon JC, Steeds RP, Kozor R.

Heart. 2019 Mar;105(6):470-476. doi: 10.1136/heartjnl-2018-313699. Epub 2018 Oct 3.

PMID:
30282640
14.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G.

Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.

15.

Cardiac Phenotype of Prehypertrophic Fabry Disease.

Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, Captur G, Tchan M, Geberhiwot T, Murphy E, Lachmann R, Ramaswami U, Edwards NC, Hughes D, Steeds RP, Moon JC.

Circ Cardiovasc Imaging. 2018 Jun;11(6):e007168. doi: 10.1161/CIRCIMAGING.117.007168.

16.

Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.

Tchan M.

Rev Endocr Metab Disord. 2018 Mar;19(1):69-79. doi: 10.1007/s11154-018-9444-5. Review.

PMID:
29497930
17.

A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.

Prasad R, Estrella J, Christodoulou J, McKellar G, Tchan MC.

JIMD Rep. 2018;42:5-8. doi: 10.1007/8904_2017_67. Epub 2017 Nov 9.

18.

Liver involvement in urea cycle disorders: a review of the literature.

Bigot A, Tchan MC, Thoreau B, Blasco H, Maillot F.

J Inherit Metab Dis. 2017 Nov;40(6):757-769. doi: 10.1007/s10545-017-0088-5. Epub 2017 Sep 12. Review.

PMID:
28900784
19.

Psychiatric adult-onset of urea cycle disorders: A case-series.

Bigot A, Brunault P, Lavigne C, Feillet F, Odent S, Kaphan E, Thauvin C, Leguy V, Broué P, Tchan MC, Maillot F.

Mol Genet Metab Rep. 2017 Jul 6;12:103-109. doi: 10.1016/j.ymgmr.2017.07.001. eCollection 2017 Sep.

20.

Maple syrup urine disease: tailoring a plan for pregnancy.

Brown J, Tchan M, Nayyar R.

J Matern Fetal Neonatal Med. 2018 Jun;31(12):1663-1666. doi: 10.1080/14767058.2017.1323328. Epub 2017 May 7.

PMID:
28478731
21.

Recent advances in autosomal-dominant polycystic kidney disease.

Rangan GK, Tchan MC, Tong A, Wong AT, Nankivell BJ.

Intern Med J. 2016 Aug;46(8):883-92. doi: 10.1111/imj.13143. Review.

PMID:
27553994
22.

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.

Horovitz DD, Acosta AX, Giugliani R, Hlavatá A, Hlavatá K, Tchan MC, Lopes Barth A, Cardoso L Jr, Embiruçu de Araújo Leão EK, Esposito AC, Kyosen SO, De Souza CF, Martins AM.

Orphanet J Rare Dis. 2016 Apr 29;11(1):51. doi: 10.1186/s13023-016-0437-8.

23.

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR.

Kozor R, Grieve SM, Tchan MC, Callaghan F, Hamilton-Craig C, Denaro C, Moon JC, Figtree GA.

Heart. 2016 Feb 15;102(4):298-302. doi: 10.1136/heartjnl-2015-308494. Epub 2016 Jan 4.

PMID:
26729695
24.

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling.

Patel C, Tchan M, Savige J, Mallett A, Tong A, Tunnicliffe DJ, Rangan GK.

Semin Nephrol. 2015 Nov;35(6):550-556.e1. doi: 10.1016/j.semnephrol.2015.10.003. Review. No abstract available.

PMID:
26718158
25.

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis.

Tchan M, Savige J, Patel C, Mallett A, Tong A, Tunnicliffe DJ, Rangan GK.

Semin Nephrol. 2015 Nov;35(6):545-549.e2. doi: 10.1016/j.semnephrol.2015.10.007. Review. No abstract available.

PMID:
26718157
26.

Autosomal Dominant Polycystic Kidney Disease: A Path Forward.

Rangan GK, Lopez-Vargas P, Nankivell BJ, Tchan M, Tong A, Tunnicliffe DJ, Savige J.

Semin Nephrol. 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002. Review.

PMID:
26718155
27.

KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease.

Rangan GK, Alexander SI, Campbell KL, Dexter MA, Lee VW, Lopez-Vargas P, Mai J, Mallett A, Patel C, Patel M, Tchan MC, Tong A, Tunnicliffe DJ, Vladica P, Savige J.

Nephrology (Carlton). 2016 Aug;21(8):705-16. doi: 10.1111/nep.12658. Review. No abstract available.

PMID:
26511892
28.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, Lachmann R, Langendonk J, Scarpelli M, Ben Omran T, Mochel F; SFEIM-A Study Group, Tchan MC.

JIMD Rep. 2016;27:85-91. doi: 10.1007/8904_2015_435. Epub 2015 Oct 9.

29.

A protocol for the identification and validation of novel genetic causes of kidney disease.

Mallett A, Patel C, Maier B, McGaughran J, Gabbett M, Takasato M, Cameron A, Trnka P, Alexander SI, Rangan G, Tchan MC, Caruana G, John G, Quinlan C, McCarthy HJ, Hyland V, Hoy WE, Wolvetang E, Taft R, Simons C, Healy H, Little M.

BMC Nephrol. 2015 Sep 15;16:152. doi: 10.1186/s12882-015-0148-8.

30.

Factors influencing the implementation of chronic care models: A systematic literature review.

Davy C, Bleasel J, Liu H, Tchan M, Ponniah S, Brown A.

BMC Fam Pract. 2015 Aug 19;16:102. doi: 10.1186/s12875-015-0319-5. Review.

31.

Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease.

Tong A, Tunnicliffe DJ, Lopez-Vargas P, Mallett A, Patel C, Savige J, Campbell K, Patel M, Tchan MC, Alexander SI, Lee V, Craig JC, Fassett R, Rangan GK.

Nephrology (Carlton). 2016 Feb;21(2):122-32. doi: 10.1111/nep.12579.

PMID:
26235729
32.

Effectiveness of chronic care models: opportunities for improving healthcare practice and health outcomes: a systematic review.

Davy C, Bleasel J, Liu H, Tchan M, Ponniah S, Brown A.

BMC Health Serv Res. 2015 May 10;15:194. doi: 10.1186/s12913-015-0854-8. Review.

33.

Adenine phosphoribosyltransferase deficiency as a cause of renal failure.

Sharma A, Jayaballa M, Ng T, Tchan M, Vucak-Dzumhur M.

Nephrology (Carlton). 2015 Jun;20(6):439-40. doi: 10.1111/nep.12412. No abstract available.

PMID:
25900388
34.

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.

Kozor R, Callaghan F, Tchan M, Hamilton-Craig C, Figtree GA, Grieve SM.

J Cardiovasc Magn Reson. 2015 Feb 21;17:22. doi: 10.1186/s12968-015-0114-4.

35.

A patient with recurrent disabling atrial fibrillation and Fabry cardiomyopathy successfully treated with single ring pulmonary vein isolation.

Qian P, Ross D, Tchan M, Sadick N.

Int J Cardiol. 2015 Mar 1;182:375-6. doi: 10.1016/j.ijcard.2015.01.001. Epub 2015 Jan 6. No abstract available.

PMID:
25594927
36.

Cognitive and psychological functioning in Fabry disease.

Sigmundsdottir L, Tchan MC, Knopman AA, Menzies GC, Batchelor J, Sillence DO.

Arch Clin Neuropsychol. 2014 Nov;29(7):642-50. doi: 10.1093/arclin/acu047.

37.

Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults.

Blair NF, Cremer PD, Tchan MC.

Pract Neurol. 2015 Feb;15(1):45-8. doi: 10.1136/practneurol-2014-000916. Epub 2014 Aug 14.

PMID:
25125564
38.

Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.

Sadick VJ, Fietz MJ, Tchan MC, Kovoor P, Thomas L, Sadick N.

Heart Lung Circ. 2014 Dec;23(12):1149-52. doi: 10.1016/j.hlc.2014.07.056. Epub 2014 Jul 16.

PMID:
25086909
39.

Expanded newborn screening in New South Wales: missed cases.

Estrella J, Wilcken B, Carpenter K, Bhattacharya K, Tchan M, Wiley V.

J Inherit Metab Dis. 2014 Nov;37(6):881-7. doi: 10.1007/s10545-014-9727-2. Epub 2014 Jun 27.

PMID:
24970580
40.

Hyperammonemic encephalopathy complicating bariatric surgery: a case study and review of the literature.

Estrella J, Yee G, Wilcken B, Tchan M, Talbot M.

Surg Obes Relat Dis. 2014 May-Jun;10(3):e35-8. doi: 10.1016/j.soard.2013.10.020. Epub 2013 Nov 12. Review. No abstract available.

PMID:
24462307
41.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J.

Orphanet J Rare Dis. 2013 Dec 17;8:193. doi: 10.1186/1750-1172-8-193.

42.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N.

J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5.

PMID:
24305960
43.

Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.

Boyd AC, Lo Q, Devine K, Tchan MC, Sillence DO, Sadick N, Richards DA, Thomas L.

J Am Soc Echocardiogr. 2013 Dec;26(12):1415-23. doi: 10.1016/j.echo.2013.08.024. Epub 2013 Oct 3.

PMID:
24094560
44.

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

Cheung R, Sillence DO, Tchan MC.

JIMD Rep. 2012;6:101-5. doi: 10.1007/8904_2011_123. Epub 2012 Feb 1.

45.

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.

JIMD Rep. 2013;10:113-7. doi: 10.1007/8904_2013_212. Epub 2013 Feb 14.

46.

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

Tchan MC, Wilcken B, Christodoulou J.

JIMD Rep. 2013;9:81-84. doi: 10.1007/8904_2012_183. Epub 2012 Oct 13.

47.

Upregulation of inward rectifying currents and Fabry disease neuropathy.

Geevasinga N, Tchan M, Sillence D, Vucic S.

J Peripher Nerv Syst. 2012 Dec;17(4):399-406. doi: 10.1111/j.1529-8027.2012.00438.x.

PMID:
23279341
48.

Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism.

Cho YH, Tchan M, Roy B, Halliday R, Wilson M, Dutt S, Siew S, Munns C, Howard N.

J Pediatr. 2012 Feb;160(2):345-8. doi: 10.1016/j.jpeds.2011.09.022. Epub 2011 Nov 1. No abstract available.

PMID:
22048054
49.

Fabry disease and Factor V Leiden: a potent vascular risk combination.

Tchan M, Sillence D.

Intern Med J. 2011 May;41(5):422-6. doi: 10.1111/j.1445-5994.2011.02483.x.

PMID:
21605293
50.

Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie).

Tchan MC, Graf N, Sillence DO.

J Inherit Metab Dis. 2011 Apr;34(2):547-8. doi: 10.1007/s10545-010-9273-5. Epub 2011 Feb 1.

PMID:
21286938

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