An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2002.610608.x/fullpdf
Reference23 articles.
1. Sialic acid storage disorders: observations on clinical and biochemical variation;Mancini;Dev Neurosci,1991
2. Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder;Haataja;Neuropediatrics,1994
3. Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children;Ylitalo;Neuropediatrics,1986
4. Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease;Wolburg-Buchholz;Neuropediatrics,1985
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4. Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation;JIMD Reports;2013
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