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 APA Style APA-ALL Style AAA 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., van Diggelen, O., Verheijen, F.& 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.https://doi.org/10.1034/j.1399-0004.2002.610608.x

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