Výsledky vyhledávání - Tchan, Michel C

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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