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doi.org/10.1034/j.1399-0004.2002.610608.x, hdl.handle.net/1765/68487
Clinical Genetics: an international journal of genetics and molecular medicine
Department of Clinical Genetics

Biancheri, R., Verbeek, E., Rossi, A., Gaggero, R., Roccatagliata, L., Gatti, A., … Mancini, G. (2002). An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. Clinical Genetics: an international journal of genetics and molecular medicine, 61(6), 443–447. doi:10.1034/j.1399-0004.2002.610608.x