Liver involvement in urea cycle disorders: a review of the literature von Bigot, Adrien, Tchan, Michel C., Thoreau, Benjamin, Blasco, Hélène, Maillot, François

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Diffusion kurtosis imaging detects subclinical white matter abnormalities in Phenylketonuria von Hellewell, Sarah C., Welton, Thomas, Eisenhuth, Kate, Tchan, Michel C., Grieve, Stuart M.

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Glycogen storage disease type IIIa in pregnant women: A guide to management von Beneru, Demi, Tchan, Michel C., Billmore, Kate, Nayyar, Roshini

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PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled... von Bratkovic, Drago, Margvelashvili, Lali, Tchan, Michel C., Nisbet, Janelle, Smith, Neil

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Left Atrial Enlargement and Reduced Atrial Compliance Occurs Early in Fabry Cardiomyopathy von Boyd, Anita C., BMedScHons, DMU (Cardiac), PhD, Lo, Queenie, MBBS, FRACP, Devine, Kerry, RN, RM, BSc, GCCDM, Tchan, Michel C., MBBS, PhD, BMedSc, FRACP, Sillence, David O., MBBS, MD, FRACP, Sadick, Norman, MBBS, PhD, FRACP, Richards, David A.B., MDBS, FRACP, Thomas, Liza, MBBS, PhD, FRACP

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Electrocardiographic Characteristics and Their Correlation with Echocardiographic Alterations in Fabry Disease von Zada, Matthew, Lo, Queenie, Trivedi, Siddharth J, Harapoz, Mehmet, Boyd, Anita C, Devine, Kerry, Sadick, Norman, Tchan, Michel C, Thomas, Liza

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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing von Grosz, Bianca R., Tisch, Stephen, Tchan, Michel C., Fung, Victor S. C., Darveniza, Paul, Fellner, Avi, Kurian, Manju A., McLean, Alison, Tomlinson, Susan E., Smyth, Renee, Devery, Sophie, Wu, Kathy H. C., Kennerson, Marina L., Kumar, Kishore R.

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Psychiatric adult-onset of urea cycle disorders: A case-series von Bigot, Adrien, Brunault, Paul, Lavigne, Christian, Feillet, François, Odent, Sylvie, Kaphan, Elsa, Thauvin, Christel, Leguy, Vanessa, Broué, Pierre, Tchan, Michel C., Maillot, François

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Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation von Kim, Albert S, Hakeem, Rashida, Abdullah, Azaliya, Hooper, Amanda J, Tchan, Michel C, Alahakoon, Thushari I, Girgis, Christian M

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Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion von White, Andrew, C. Tchan, Michel

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Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR von Kozor, Rebecca, Grieve, Stuart M, Tchan, Michel C, Callaghan, Fraser, Hamilton-Craig, Christian, Denaro, Charles, Moon, James C, Figtree, Gemma A

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Basal Segmental Longitudinal Strain: A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease von Zada, Matthew, Lo, Queenie, Boyd, Anita C., Bradley, Sue, Devine, Kerry, Denaro, Charles P., Sadick, Norman, Richards, David A.B., Tchan, Michel C., Thomas, Liza

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Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes von Kumar, Kishore R., Davis, Ryan L., Tchan, Michel C., Wali, G.M., Mahant, Neil, Ng, Karl, Kotschet, Katya, Siow, Sue-Faye, Gu, Jason, Walls, Zachary, Kang, Ce, Wali, Gautam, Levy, Stan, Phua, Chung Sen, Yiannikas, Con, Darveniza, Paul, Chang, Florence C.F., Morales-Briceño, Hugo, Rowe, Dominic B., Drew, Alex, Gayevskiy, Velimir, Cowley, Mark J., Minoche, Andre E., Tisch, Stephen, Hayes, Michael, Kummerfeld, Sarah, Fung, Victor S.C., Sue, Carolyn M.

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Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III von Tchan, Michel C., Sillence, David

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Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation von Sadick, Victoria J., BAppSc(Hons), Fietz, Michael J., PhD, Tchan, Michel C., MBBS, PhD, Kovoor, Pramesh, MBBS, PhD, Thomas, Liza, MBBS, PhD, Sadick, Norman, MBBS, PhD

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Genome sequencing reanalysis increases the diagnostic yield in dystonia von Fellner, Avi, Wali, Gurusidheshwar M., Mahant, Neil, Grosz, Bianca R., Ellis, Melina, Narayanan, Ramesh K., Ng, Karl, Davis, Ryan L., Tchan, Michel C., Kotschet, Katya, Yeow, Dennis, Rudaks, Laura I., Siow, Sue-Faye, Wali, Gautam, Yiannikas, Con, Hobbs, Matthew, Copty, Joseph, Geaghan, Michael, Darveniza, Paul, Liang, Christina, Williams, Laura J., Chang, Florence C.F., Morales-Briceño, Hugo, Tisch, Stephen, Hayes, Michael, Whyte, Scott, Kummerfeld, Sarah, Kennerson, Marina L., Cowley, Mark J., Fung, Victor S.C., Sue, Carolyn M., Kumar, Kishore R.

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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia von Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John

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Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency von Kline, Brianna L, Jaillard, Sylvie, Bell, Katrina M, Bakhshalizadeh, Shabnam, Robevska, Gorjana, van den Bergen, Jocelyn, Dulon, Jérôme, Ayers, Katie L, Christodoulou, John, Tchan, Michel C, Touraine, Philippe, Sinclair, Andrew H, Tucker, Elena J

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Novel Mutations Found in Individuals with Adult-Onset Pompe Disease von Aung-Htut, May T., Ham, Kristin A., Tchan, Michel C., Fletcher, Sue, Wilton, Steve D.

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Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs von Hannah-Shmouni, Fady, Stratakis, Constantine A, Sechi, Annalisa, Langeveld, Mirjam, Hiwot, Tarekegn G, Tchan, Michel C, Mochel, Fanny, Lynd, Larry D, Sirrs, Sandra

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