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Abbreviation : SD
Long Form : Salla disease
No. Year Title Co-occurring Abbreviation
2015 A 13-year follow-up of Finnish patients with Salla disease. ---
2012 An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. ---
2006 Prenatal diagnosis of free sialic acid storage disorders (SASD). ISSD, SASD
2005 Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. ISSD
2004 Sialin expression in the CNS implicates extralysosomal function in neurons. CNS, ISSD
2003 A case of Salla disease with involvement of the cerebellar white matter. ---
2002 Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. FIN, ISSD
2001 Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. ISSD
2000 The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. ISSD
10  1996 Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. ---
11  1995 Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. ---
12  1995 Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. ISSD
13  1994 Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. MRI
14  1994 The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. ---