An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

2002-06-01

Additional Metadata
Keywords	Infantile sialic acid storage disease (ISSD), Magnetic resonance imaging, Molecular analysis, Salla disease
Persistent URL	doi.org/10.1034/j.1399-0004.2002.610608.x, hdl.handle.net/1765/68487
Journal	Clinical Genetics: an international journal of genetics and molecular medicine
Organisation	Department of Clinical Genetics
Citation APA Style AAA Style APA Style Cell Style Chicago Style Harvard Style IEEE Style MLA Style Nature Style Vancouver Style American-Institute-of-Physics Style Council-of-Science-Editors Style BibTex Format Endnote Format RIS Format CSL Format DOIs only Format	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

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