Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation von Lavalle, L, Thomas, A S, Beaton, B, Ebrahim, H, Reed, M, Ramaswami, U, Elliott, P, Mehta, A B, Hughes, D A

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Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England von Broomfield, A., Davison, J., Roberts, J., Stewart, C., Hensman, P., Beesley, C., Tylee, K., Rust, S., Schwahn, B., Jameson, E., Vijay, S., Santra, S., Sreekantam, S., Ramaswami, U., Chakrapani, A., Raiman, J., Cleary, M.A., Jones, S.A.

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An Activating Mutation of AKT2 and Human Hypoglycemia von Hussain, K., Challis, B., Rocha, N., Payne, F., Minic, M., Thompson, A., Daly, A., Scott, C., Harris, J., Smillie, B. J. L., Savage, D. B., Ramaswami, U., De Lonlay, P., O'Rahilly, S., Barroso, I., Semple, R. K.

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Fabry disease: a review of current management strategies von Mehta, A., Beck, M., Eyskens, F., Feliciani, C., Kantola, I., Ramaswami, U., Rolfs, A., Rivera, A., Waldek, S., Germain, D.P.

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The UK paediatric familial hypercholesterolaemia (FH) register: Preliminary data von Humphries, S, Cooper, J, Ramaswami, U

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G470 The UK Paediatric Familial Hypercholesterolaemia (FH) Register: Preliminary Data von Humphries, SE, Ramaswami, U

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Fabry disease and the skin: data from FOS, the Fabry outcome survey von Orteu, C.H., Jansen, T., Lidove, O., Jaussaud, R., Hughes, D.A., Pintos-Morell, G., Ramaswami, U., Parini, R., Sunder-Plassman, G., Beck, M., Mehta, A.B.

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Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) von Jones, S. A., Almássy, Z., Beck, M., Burt, K., Clarke, J. T., Giugliani, R., Hendriksz, C., Kroepfl, T., Lavery, L., Lin, S.-P., Malm, G., Ramaswami, U., Tincheva, R., Wraith, J. E.

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Multidisciplinary Management of Hunter Syndrome von Muenzer, Joseph, Beck, M, Eng, C. M, Escolar, M. L, Giugliani, R, Guffon, N. H, Harmatz, P, Kamin, W, Kampmann, C, Koseoglu, S. T, Link, B, Martin, R. A, Molter, D. W, Munoz Rojas, M. V, Ogilvie, J. W, Parini, R, Ramaswami, U, Scarpa, M, Schwartz, I. V, Wood, R. E, Wraith, E

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Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity von Allen, L E, Cosgrave, E M, Kersey, J P, Ramaswami, U

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Fabry disease: overall effects of agalsidase alfa treatment von Beck, M., Ricci, R., Widmer, U., Dehout, F., De Lorenzo, A. García, Kampmann, C., Linhart, A., Sunder-Plassmann, G., Houge, G., Ramaswami, U., Gal, A., Mehta, A.

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How should high cholesterol, mutation negative children, identified through the child-parent screening project be managed? von Priestley-Barnham, L., Morris, A., Dale, P., Humphries, S.E., Ramaswami, U.

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Clinical manifestations of Fabry disease in children : Data from the Fabry Outcome Survey von RAMASWAMI, Uma, WHYBRA, Catharina, PARINI, Rosella, PINTOS-MORELL, Guillem, MEHTA, Atul, SUNDER-PLASSMANN, Gere, WIDMER, Urs, BECK, Michael

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Enzyme replacement therapy with agalsidase alfa in children with Fabry disease von Ramaswami, U, Wendt, S, Pintos-Morell, G, Parini, R, Whybra, C, Leon Leal, J A, Santus, F, Beck, M

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Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey von Ramaswami, U, Parini, R, Pintos-Morell, G, Kalkum, G, Kampmann, C, Beck, M

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Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey von Keilmann, A, Hajioff, D, Ramaswami, U

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Safety of agalsidase alfa in patients with Fabry disease under 7 years von Ramaswami, U, Parini, R, Kampmann, C, Beck, M

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Dietary modifications in patients receiving miglustat von Champion, H., Ramaswami, U., Imrie, J., Lachmann, R. H., Gallagher, J., Cox, T. M., Wraith, J. E.

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Age adjusting severity scores for Anderson–Fabry Disease von Hughes, D.A., Ramaswami, U., Barba Romero, M.-Á., Deegan, P.

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Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey von LIDOVE, O., RAMASWAMI, U., JAUSSAUD, R., BARBEY, F., MAISONOBE, T., CAILLAUD, C., BECK, M., SUNDER-PLASSMANN, G., LINHART, A., MEHTA, A

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