Publications by authors named "Michel Tchan"

53Publications

Basal Segmental Longitudinal Strain: A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease.

J Am Soc Echocardiogr 2020 Nov 24. Epub 2020 Nov 24.

Westmead Clinical School, University of Sydney, Westmead Hospital, Sydney, Australia; Department of Cardiology, Westmead Hospital, Sydney, Australia; South Western Sydney Clinical School, University of New South Wales, Liverpool Hospital, Sydney, Australia. Electronic address:

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November 2020

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Dec;143(11):3242-3261

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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December 2020

The Head Retraction Reflex in Niemann-Pick Type C: A Novel Diagnostic Clue.

Mov Disord Clin Pract 2020 Jul 18;7(5):543-547. Epub 2020 Jun 18.

Movement Disorders Unit, Neurology Department Westmead Hospital Westmead New South Wales Australia.

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July 2020

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

Endocrinol Diabetes Metab Case Rep 2020 Mar 13;2020. Epub 2020 Mar 13.

Department of Diabetes and Endocrinology, Westmead Hospital, Westmead, New South Wales, Australia.

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March 2020

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

Orphanet J Rare Dis 2020 02 18;15(1):53. Epub 2020 Feb 18.

Disciplines of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia.

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February 2020

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

Genes (Basel) 2020 01 28;11(2). Epub 2020 Jan 28.

Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth 6150, Australia.

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January 2020

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

Circ Cardiovasc Imaging 2019 12 12;12(12):e009430. Epub 2019 Dec 12.

From the Institute of Cardiovascular Science, University College London, United Kingdom (S.N., J.B.A., K.D.K., G.C., T.A.T., J.C.M.).

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December 2019

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

Brain 2020 03;143(3):751-770

Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW 2145, Australia.

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March 2020

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

Parkinsonism Relat Disord 2019 12 7;69:111-118. Epub 2019 Nov 7.

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, New South Wales, 2065, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Camperdown, 2050, Australia; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, 2065, Australia. Electronic address:

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December 2019

Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.

Kidney Int Rep 2019 Aug 7;4(8):1161-1170. Epub 2019 May 7.

Department of Renal Medicine, Westmead Hospital, Western Sydney Local Health District, Sydney, NSW, Australia.

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August 2019

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

Eur Heart J Case Rep 2018 Dec 7;2(4):yty122. Epub 2018 Dec 7.

Cardiology Department, Royal North Shore Hospital, Sydney, Australia.

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December 2018

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

Lancet Diabetes Endocrinol 2019 02;7(2):82-84

Division of Endocrinology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.

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February 2019

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

Authors:
Michel Tchan

Rev Endocr Metab Disord 2018 03;19(1):69-79

Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia.

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March 2018

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

J Inherit Metab Dis 2017 11 12;40(6):757-769. Epub 2017 Sep 12.

CHRU de Tours, service médecine interne, Tours, France.

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November 2017

Maple syrup urine disease: tailoring a plan for pregnancy.

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

d Department of Maternal Fetal Medicine , Westmead Hospital , New South Wales , Australia.

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June 2018

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

Heart 2016 02 4;102(4):298-302. Epub 2016 Jan 4.

North Shore Heart Research Group, Kolling Institute of Medical Research, University of Sydney, Sydney, New South Wales, Australia Sydney Translational Imaging Laboratory, Sydney Medical School and Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia Department of Cardiology, Royal North Shore Hospital, Sydney, New South Wales, Australia.

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February 2016

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

Semin Nephrol 2015 Nov;35(6):550-556.e1

Department of Renal Medicine, Westmead Hospital, Western Sydney Local Health District, Sydney, Australia; Centre for Transplant and Renal Research, Westmead Institute for Medical Research, University of Sydney, Westmead, Sydney, Australia.

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November 2015

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

Semin Nephrol 2015 Nov;35(6):545-549.e2

Department of Renal Medicine, Westmead Hospital, Western Sydney Local Health District, Sydney, Australia; Centre for Transplant and Renal Research, Westmead Institute for Medical Research, University of Sydney, Westmead, Sydney, Australia.

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November 2015

Autosomal Dominant Polycystic Kidney Disease: A Path Forward.

Semin Nephrol 2015 Nov;35(6):524-37

The University of Melbourne, Department of Medicine, Melbourne Health and Northern Health, Melbourne, Australia; Department of Nephrology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

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November 2015

Adenine phosphoribosyltransferase deficiency as a cause of renal failure.

Nephrology (Carlton) 2015 Jun;20(6):439-40

Department of Renal Medicine, Westmead Hospital, Westmead, New South Wales, Australia.

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June 2015

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

Int J Cardiol 2015 Mar 6;182:375-6. Epub 2015 Jan 6.

Department of Cardiology, Westmead Hospital, Sydney, Australia; Medical School, University of Sydney, Sydney, Australia; Medical School, University of Western Sydney, Australia.

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March 2015

Cognitive and psychological functioning in Fabry disease.

Arch Clin Neuropsychol 2014 Nov;29(7):642-50

Department of Genetic Medicine, Westmead Hospital and Discipline of Genetic Medicine, Sydney Medical School, Sydney, Australia.

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November 2014

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

Pract Neurol 2015 Feb 14;15(1):45-8. Epub 2014 Aug 14.

Adult Genetic Metabolic Disorders Service, Westmead Hospital, Sydney, Australia.

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February 2015

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

Heart Lung Circ 2014 Dec 16;23(12):1149-52. Epub 2014 Jul 16.

Department of Cardiology, Westmead Hospital, Westmead NSW, Australia; Department of Cardiology, Blacktown Hospital and University of Western Sydney, NSW, Australia. Electronic address:

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December 2014

Expanded newborn screening in New South Wales: missed cases.

J Inherit Metab Dis 2014 Nov 27;37(6):881-7. Epub 2014 Jun 27.

Department of Medical Genetics Westmead Hospital, Sydney, Australia.

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November 2014

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

J Am Soc Echocardiogr 2013 Dec 3;26(12):1415-23. Epub 2013 Oct 3.

South Western Sydney Clinical School, University of New South Wales, Liverpool Hospital, Sydney, Australia.

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December 2013

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

JIMD Rep 2013 14;10:113-7. Epub 2013 Feb 14.

Department of Genetic Medicine, Westmead Hospital, 533, Westmead, NSW, 2145, Australia,

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May 2013

Upregulation of inward rectifying currents and Fabry disease neuropathy.

J Peripher Nerv Syst 2012 Dec;17(4):399-406

Department of Neurology, Sydney Medical School Westmead, University of Sydney, Sydney, Australia.

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December 2012

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

J Inherit Metab Dis 2011 Apr 1;34(2):547-8. Epub 2011 Feb 1.

Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia.

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April 2011

Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III.

J Intellect Dev Disabil 2009 Sep;34(3):275-9

The Children's Hospital at Westmead, Sydney, Australia.

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September 2009

Metastatic prostate cancer mimicking primary osteosarcoma of the jaw: an infrequent clinical case.

South Med J 2008 Jun;101(6):657-9

Department of Medical Oncology, Royal Darwin Hospital, Darwin, NT, Australia.

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June 2008