Update on transcobalamin deficiency: clinical presentation, treatment and outcome von Trakadis, Y. J., Alfares, A., Bodamer, O. A., Buyukavci, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Manoli, I., Mitchell, J., Nordwall, M., Prasad, C., Scaglia, F., Schiff, M., Schrewe, B., Touati, G., Tchan, M. C., Varet, B., Venditti, C. P., Zafeiriou, D., Rupar, C. A., Rosenblatt, D. S., Watkins, D., Braverman, N.

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ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle von Williams, L, Waller, S E, Bradley, M, Lockhart, A, Narayanan, R K, Kumar, K R, Morales Briceno, H, Tchan, M, Healy, D G, Fung, V S C

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Recent advances in autosomal-dominant polycystic kidney disease von Rangan, G. K., Tchan, M. C., Tong, A., Wong, A. T. Y., Nankivell, B. J.

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PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFT... von Villarrubia, J., Wasserstein, M., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Hennermann, J. B., Hollak, C., Ikezoe, T., Lachmann, R., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Thurberg, B. L., Yarramaneni, A., Rawlings, A. M., Kim, Y., Kumar, M.

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Fabry disease and Factor V Leiden: a potent vascular risk combination von Tchan, M., Sillence, D.

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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group von Sirrs, S., Hollak, C., Merkel, M., Sechi, A., Glamuzina, E., Janssen, M. C., Lachmann, R., Langendonk, J., Scarpelli, M., Ben Omran, T., Mochel, F., Tchan, M. C.

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The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case von Tchan, M. C., Wilcken, B., Christodoulou, J.

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LA Strain Parameters Are Altered in Anderson Fabry Disease von Stefani, L., Boyd, A., Geenty, P., Tchan, M., Thomas, L.

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Cardiac Mass and Myocardial Late Enhancement are Associated with Overall Disease Severity and Left Ventricular Pressure Load in Fabry Disease von Kozor, R, Tchan, M, Sillence, D, Grieve, S, Figtree, G

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Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease von Cheung, R., Sillence, D. O., Tchan, M. C.

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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype―phenotype correlation von HAMILTON, Eline M, POLDER, Emiel, SIMONS, Cas, TAFT, Ryan J, ABBINK, Truus E. M, WOLF, Nicole I, VAN DER KNAAP, Marjo S, VANDERVER, Adeline, NAIDU, Sakkubai, SCHIFFMANN, Raphael, FISHER, Kate, RAGUZ, Ana Boban, BLUMKIN, Luba, VAN BERKEL, Carola G. M, WAISFISZ, Quinten

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Basal Segmental Strain as a Marker of Cardiac Involvement in Anderson-Fabry Disease von Stefani, L., Boyd, A., Ferkh, A., Zada, M., Devine, K., Trivedi, S., Tchan, M., Thomas, L.

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Disproportionate Elevations of Cardiac Troponin in Fabry Disease: A Case Series of False Positives due to Macrotroponin von Moussa, Y., Suthaharen, C., Eisenhuth, K., Devine, K., Caldwell, G., Tchan, M., Rahman, Y.

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A pragmatic randomized trial of a polypill-based strategy to improve use of indicated preventive treatments in people at high cardiovascular disease risk von Patel, Anushka, Cass, Alan, Peiris, David, Usherwood, Tim, Brown, Alex, Jan, Stephen, Neal, Bruce, Hillis, Graham S, Rafter, Natasha, Tonkin, Andrew, Webster, Ruth, Billot, Laurent, Bompoint, Severine, Burch, Carol, Burke, Hugh, Hayman, Noel, Molanus, Barbara, Reid, Christopher M, Shiel, Louise, Togni, Samantha, Rodgers, Anthony

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey von van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.

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Cognitive and Psychological Functioning in Fabry Disease von SIGMUNDSDOTTIR, Linda, TCHAN, Michel C, KNOPMAN, Alex A, MENZIES, Graham C, BATCHELOR, Jennifer, SILLENCE, David O

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Electrocardiographic Characteristics in Fabry Disease Patients: Impact of Impaired Longitudinal Strain and Left Ventricular Hypertrophy von Zada, M., Lo, Q., Trivedi, S., Harapoz, M., Boyd, A., Devine, K., Sadick, N., Tchan, M., Thomas, L.

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107 Electrocardiographic Characteristics in Fabry Disease; Gender Based Differences von Zada, M., Geenty, P., Lo, Q., Boyd, A., Devine, K., Tchan, M., Sadick, N., Thomas, L.

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133 Left Ventricular Echocardiographic Structural Parameters That Determine Major Adverse Cardiovascular Events (MACE) in Fabry Disease von Zada, M., Geenty, P., Lo, Q., Boyd, A., Devine, K., Tchan, M., Sadick, N., Thomas, L.

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Cardiac Phenotype Progression Despite Enzyme Replacement Therapy in a Female Double Heterozygote Fabry Patient von McConnell, E., Every, J., Tchan, M., Kozor, R.

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