Rezultati - Tchan, Michel C

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

Recurrent Biallelic p.L347P PINK1 Variant in Polynesians with Parkinsonism and Isolated Dopa‐Responsive Dystonia od Morales‐Briceno, Hugo, Ong, Tien Lee, Duma, Stephen R., Murray, Natalia, Pepper, Elizabeth M., Ha, Ainhi, Tchan, Michel C., Fung, Victor S.C.

Polni tekst Polni tekst Polni tekst

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia od 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

Polni tekst Polni tekst Polni tekst

Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD od 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.

Polni tekst Polni tekst Polni tekst

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing od 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.

Polni tekst Polni tekst Polni tekst

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series od 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

Polni tekst Polni tekst Polni tekst

A protocol for the identification and validation of novel genetic causes of kidney disease od 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

Polni tekst Polni tekst Polni tekst

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency od 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.

Polni tekst Polni tekst Polni tekst

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase od 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.

Polni tekst Polni tekst Polni tekst