检索结果 - Tchan, Michel C

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase 由 Tchan, Michel C., Devine, Kerry T., Sillence, David O.

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

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A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy 由 Prasad, Raajiv, Estrella, Jane, Christodoulou, John, McKellar, Geoffrey, Tchan, Michel C.

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

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

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Cognitive and Psychological Functioning in Fabry Disease 由 Sigmundsdottir, Linda, Tchan, Michel C., Knopman, Alex A., Menzies, Graham C., Batchelor, Jennifer, Sillence, David O.

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

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Electrocardiographic Characteristics and Their Correlation with Echocardiographic Alterations in Fabry Disease 由 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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Psychiatric adult-onset of urea cycle disorders: A case-series 由 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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Recurrent Biallelic p.L347P PINK1 Variant in Polynesians with Parkinsonism and Isolated Dopa‐Responsive Dystonia 由 Morales‐Briceno, Hugo, Ong, Tien Lee, Duma, Stephen R., Murray, Natalia, Pepper, Elizabeth M., Ha, Ainhi, Tchan, Michel C., Fung, Victor S.C.

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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia 由 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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Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD 由 Li, Jennifer, Shingde, Meena, Nankivell, Brian J., Tchan, Michel C., Bose, Bhadran, Chapman, Jeremy R., Kable, Kathy, Kim, Sul Ki, Vucak-Dzumhur, Mirna, Wong, Germaine, Rangan, Gopala K.

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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing 由 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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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series 由 Horovitz, Dafne Dain Gandelman, Acosta, Angelina X., Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C., Lopes Barth, Anneliese, Cardoso, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria

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A protocol for the identification and validation of novel genetic causes of kidney disease 由 Mallett, Andrew, Patel, Chirag, Maier, Barbara, McGaughran, Julie, Gabbett, Michael, Takasato, Minoru, Cameron, Anne, Trnka, Peter, I. Alexander, Stephen, Rangan, Gopala, Tchan, Michel C., Caruana, Georgina, John, George, Quinlan, Cathy, McCarthy, Hugh J., Hyland, Valentine, E. Hoy, Wendy, Wolvetang, Ernst, Taft, Ryan, Simons, Cas, Healy, Helen, Little, Melissa

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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency 由 van Rijt, Willemijn J., Jager, Emmalie A., Allersma, Derk P., Aktuğlu Zeybek, A. Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J., Gautschi, Matthias, Geraghty, Michael T., Gil-Ortega, David, Larson, Austin A., Moore, Francesca, Morava, Eva, Morris, Andrew A., Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C., Vockley, Jerry, Witters, Peter, Wortmann, Saskia B., van Spronsen, Francjan, Van Hove, Johan L. K., Derks, Terry G. J.

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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase 由 Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.

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