Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease by C. Papadopoulos, G.K. Papadimas, H. Michelakakis, E. Kararizou, P. Manta

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Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1 by A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox, J. Aerts, the International Working Group of Gaucher Disease (IWGGD)

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Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation by A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg

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