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Article

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

Prenatal diagnosis - 1 May 2001

Salomäki P, Aula N, Juvonen V, Renlund M, Aula P

Abstract excerpt

Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult-type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples....

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Identifiers

PMID: 11360275
DOI: 10.1002/pd.68

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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