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Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
Schleutker J, Sistonen P, Aula P. Schleutker J, et al. J Med Genet. 1996 Jan;33(1):36-41. doi: 10.1136/jmg.33.1.36. J Med Genet. 1996. PMID: 8825046 Free PMC article.
Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. ...
Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lyso …
Prenatal diagnosis of free sialic acid storage disorders (SASD).
Aula N, Aula P. Aula N, et al. Prenat Diagn. 2006 Aug;26(8):655-8. doi: 10.1002/pd.1431. Prenat Diagn. 2006. PMID: 16715535
Free sialic acid storage disorders, Salla disease (SD) and Infantile sialic acid storage disease (ISSD), are lysosomal storage diseases due to impaired function of a sialic acid transporter, sialin, at the lysosomal membrane. Several mutations of the sialin g …
Free sialic acid storage disorders, Salla disease (SD) and Infantile sialic acid storage disease (ISSD), are lysosomal …
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L. Aula N, et al. Am J Hum Genet. 2000 Oct;67(4):832-40. doi: 10.1086/303077. Epub 2000 Aug 17. Am J Hum Genet. 2000. PMID: 10947946 Free PMC article.
Lysosomal free sialic acid-storage diseases include the allelic disorders Salla disease (SD) and infantile sialic acid-storage disease (ISSD). ...In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with eithe …
Lysosomal free sialic acid-storage diseases include the allelic disorders Salla disease (SD) and infantile sialic acid-storage …