Browsing by Author Tchan, Michel

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Issue DateTitleAuthor(s)Citation
2016Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: A multinational, retrospective, chart review case seriesTchan, Michel; Acosta, Angelina Xavier Avier; Cardoso, Laercio; De Souza, Carolina Fischinger Moura; Embirucu de Araujo Leao, Emilia Katiane; Esposito, Ana Carolina; Giugliani, Roberto; Hlavata, Anna; Hlavata, Katarina; Horovitz, Dafne Dain Gandelman; Kyosen, Sandra Obikawa Bikawa; Lopes Barth, Anneliese; Martins, Ana Maria Ava; Western Clinical School: Medicine (Westmead)Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: A multinational, retrospective, chart review case series, Orphanet Journal of Rare Diseases, vol.11, 1, 2016,pp 1-8
2016Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: A multinational, retrospective, chart review case seriesTchan, Michel; Acosta, Angelina Xavier Avier; Cardoso, Laercio; De Souza, Carolina Fischinger Moura; Embirucu de Araujo Leao, Emilia Katiane; Esposito, Ana Carolina; Giugliani, Roberto; Hlavata, Anna; Hlavata, Katarina; Horovitz, Dafne Dain Gandelman; Kyosen, Sandra Obikawa Bikawa; Lopes Barth, Anneliese; Martins, Ana Maria Ava; Western Clinical School: Medicine (Westmead)Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: A multinational, retrospective, chart review case series, Orphanet Journal of Rare Diseases, vol.11, 1, 2016,pp 1-8
2015Autosomal Dominant Polycystic Kidney Disease: A Path ForwardLopez-Vargas, Pamela; Nankivell (Nankievell), Brian; Rangan, Gopala; Tchan, Michel; Tong, Allison; Tunnicliffe, David; Savige, Judy; School of Public Health: Public Health; Children's Hospital Westmead: Medicine; Western Clinical School: Westmead Institute for Medical Res; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; School of Public Health: Public HealthAutosomal Dominant Polycystic Kidney Disease: A Path Forward, Seminars in Nephrology, vol.35, 6, 2015,pp 524-537
2016Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MRCallaghan, Fraser; Figtree, Gemma Alexandra; Grieve, Stuart; Kozor, R; Tchan, Michel; Denaro, Charles; Hamilton-Craig, Christian; Moon, James C; Central Clinical School: Imaging; Northern Clinical School: Medicine; Central Clinical School: Medicine; Northern Clinical School: Kolling Institute; Western Clinical School: Medicine (Westmead)Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR, Heart, vol.102, 4, 2016,pp 298-302
2014Cognitive and Psychological Functioning in Fabry DiseaseSillence, David; Tchan, Michel; Batchelor, Jennifer; Knopman, Alex A; Menzies, Graham C; Sigmundsdottir, Linda; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead)Cognitive and Psychological Functioning in Fabry Disease, Archives of Clinical Neuropsychology, vol.29, 7, 2014,pp 642-650
2015A disproportionate contribution of papillary muscles and trabeculations to total left ventricular mass makes choice of cardiovascular magnetic resonance analysis technique critical in Fabry diseaseCallaghan, Fraser; Figtree, Gemma Alexandra; Grieve, Stuart; Kozor, Rebecca; Tchan, Michel; Hamilton-Craig, Christian; Central Clinical School: Imaging; Northern Clinical School: Medicine; Central Clinical School: Medicine; Northern Clinical School: Kolling Institute; Western Clinical School: Medicine (Westmead)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, vol.17, 1, 2015,pp 1-7
2014Expanded newborn screening in New South Wales: missed casesBhattacharya, Kaustuv; Carpenter, Kevin; Tchan, Michel; Wilcken, Bridget; Wiley, Veronica; Estrella, Jane; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthExpanded newborn screening in New South Wales: missed cases, Journal of Inherited Metabolic Disease (JIMD), vol.37, 6, 2014,pp 881-887
2016The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians GroupTchan, Michel; Ben Omran, Tawfeg; Glamuzina, Emma; Hollak, Carla; Janssen, Miriam C.; Lachmann, Robin; Langendonk, Janneke; Merkel, Martin; Mochel, Fanny; Scarpelli, Mauro; Sechi, Annalisa; Sirrs, Sandra; Western Clinical School: Medicine (Westmead)The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group in JIMD Reports, Springer-Verlag, 2016, pp. 85-91
2016The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians GroupTchan, Michel; Ben Omran, Tawfeg; Glamuzina, Emma; Hollak, Carla; Janssen, Miriam C.; Lachmann, Robin; Langendonk, Janneke; Merkel, Martin; Mochel, Fanny; Scarpelli, Mauro; Sechi, Annalisa; Sirrs, Sandra; Western Clinical School: Medicine (Westmead)The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group in JIMD Reports, Springer-Verlag, 2016, pp. 85-91
2012Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry DiseaseSillence, David; Cheung, R; Tchan, Michel; Children's Hospital Westmead: Paediatrics & Child HealthHomocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease in JIMD Reports - Case and Research Reports, 2012/3, Springer, 2012, pp. 101-105
2014Hyperammonemic encephalopathy complicating bariatric surgery: A case study and review of the literatureEstrella, Jane; Tchan, Michel; Wilcken, Bridget; Talbot, Michael; Yee, Gary; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child HealthHyperammonemic encephalopathy complicating bariatric surgery: A case study and review of the literature, Surgery for Obesity and Related Diseases, vol.10, 3, 2014,pp e35-e38
2016Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney diseaseCraig, Jonathan; Lee, Vincent; Lopez-Vargas, Pamela; Patel, Manish; Rangan, Gopala; Tchan, Michel; Tong, Allison; Tunnicliffe, David; Alexander, Stephen I; Campbell, Katrina; Fassett, Robert; Mallett, Andrew; Patel, Chirag; Savige, Judy; School of Public Health: Public Health; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; Western Clinical School: Surgery; Western Clinical School: Westmead Institute for Medical Res; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; School of Public Health: Public HealthIdentifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease, Nephrology, vol.21, 2, 2016,pp 122-132
2016KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney diseaseLee, Vincent; Lopez-Vargas, Pamela; Patel, Manish; Rangan, Gopala; Tchan, Michel; Tong, Allison; Tunnicliffe, David; Alexander, Stephen; Campbell, Katrina; Dexter, Mark A J; Mai, Jun; Mallett, Andrew; Patel, Chirag; Savige, Judy; Vladica, Philip; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; Western Clinical School: Surgery; Western Clinical School: Westmead Institute for Medical Res; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; School of Public Health: Public HealthKHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease, Nephrology, vol.21, 8, 2016,pp 705-716
2016KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney diseaseLee, Vincent; Lopez-Vargas, Pamela; Patel, Manish; Rangan, Gopala; Tchan, Michel; Tong, Allison; Tunnicliffe, David; Alexander, Stephen; Campbell, Katrina; Dexter, Mark A J; Mai, Jun; Mallett, Andrew; Patel, Chirag; Savige, Judy; Vladica, Philip; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; Western Clinical School: Surgery; Western Clinical School: Westmead Institute for Medical Res; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; School of Public Health: Public HealthKHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease, Nephrology, vol.21, 8, 2016,pp 705-716
2014Klinefelter Syndrome with Fabry Disease - a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive MutationKovoor, Pramesh; Tchan, Michel; Fietz, Michael; Sadick, Norman; Sadick, Victoria; Thomas, Liza; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead)Klinefelter Syndrome with Fabry Disease - a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation, Heart, Lung and Circulation, vol.23, 12, 2014,pp 1149-1152
2013Left atrial enlargement and reduced atrial compliance occurs early in fabry cardiomyopathyRichards, David; Sadick, Norman; Sillence, David; Tchan, Michel; Thomas, Liza; Boyd, Anita; Devine, Kerry; Lo, Queenie; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead)Left atrial enlargement and reduced atrial compliance occurs early in fabry cardiomyopathy, Journal of the American Society of Echocardiography, vol.26, 12, 2013,pp 1415-1423
2013Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Tchan, Michel; Davis, Mark; de Lonlay, Pascale; Duff, Rachael; Rotig, Agnes; Rudinger-Thirion, Joelle; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Western Clinical School: Medicine (Westmead)Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia, Orphanet Journal of Rare Diseases, vol.8, 1, 2013,pp 1-11
2017Psychiatric adult-onset of urea cycle disorders: A case-seriesTchan, Michel; Bigot, Adrien; Broue, Pierre; Brunault, Paul; Feillet, Francois; Kaphan, Elsa; Lavigne, Christian; Leguy, Vanessa; Maillot, Francois; Odent, Sylvie; Thauvin, Christel; Westmead Clinical School: MedicinePsychiatric adult-onset of urea cycle disorders: A case-series, Molecular Genetics and Metabolism Reports, vol.12, N/A, 2017,pp 103-109
2016Recent advances in autosomal-dominant polycystic kidney diseaseNankivell (Nankievell), Brian; Rangan, Gopala; Tchan, Michel; Tong, Allison; Wong, Annette; Childrens Hospital Westmead: Medicine; Western Clinical School: Westmead Institute for Medical Res; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; School of Molecular Bioscience (SMB)Recent advances in autosomal-dominant polycystic kidney disease, Internal Medicine Journal, vol.46, 8, 2016,pp 883-892
2014Update on transcobalamin deficiency: clinical presentation, treatment and outcomeChristodoulou, John; Tchan, Michel; Alfares, Ahmed A.; Bibi, Ha M.; Bodamer, Olaf; Buyukavici, Mustafa; Connor, Philip; Echenne, Bernard B; et al, Various; Glamuzina, Emma; Gonzalez-Fernandez, Fernando; Trakadis, Yannis J; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead)Update on transcobalamin deficiency: clinical presentation, treatment and outcome, Journal of Inherited Metabolic Disease (JIMD), vol.37, 3, 2014,pp 461-473