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    Jules G Leroy, Emery and Rimoin's Principles and Practice of Medical Genetics, 2013,

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    Ajit Varki, Sialic acids in human health and disease, Trends in Molecular Medicine, 2008, 14, 8, 351

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    R. Biancheri, A. Rossi, H. A. Verbeek, R. Schot, F. Corsolini, S. Assereto, G. M. S. Mancini, F. W. Verheijen, C. Minetti, M. Filocamo, Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease, Neurogenetics, 2005, 6, 4, 195

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    D Landau, D Cohen, H Shalev, V Pinsk, B Yerushalmi, M Zeigler, O.S Birk, A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred, Molecular Genetics and Metabolism, 2004, 82, 2, 167

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