Free sialic acid storage (Salla) disease in Sweden
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2002.tb02828.x/fullpdf
Reference13 articles.
1. Salla disease”: a new lysosomal storage disorder;Aula;Arch Neurol,1979
2. Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-15;Schleutker;Genomics,1995
3. Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism;Renlund;Neurology,1983
4. Clinical and laboratory diagnosis of Salla disease in infancy and childhood;Renlund;J Pediatr,1984
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1. Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene;Journal of Pediatric Endocrinology and Metabolism;2018-10-25
2. Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis;Clinica Chimica Acta;2018-07
3. A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease;Pediatric Neurology;2017-09
4. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease;Orphanet Journal of Rare Diseases;2017-02-10
5. Epidemiology of lysosomal storage diseases in Sweden;Acta Paediatrica;2014-10-15
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