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Article

Prenatal diagnosis of lysosomal storage diseases.

Brain pathology (Zurich, Switzerland) - 1 Jan 1998

Lake B D, Young E P, Winchester B G

Abstract excerpt

The prenatal diagnosis of lysosomal storage disorders can be achieved, once the diagnosis is confirmed in the index case, by a variety of techniques including analysis of amniotic fluid, asay of enzymic activity in cultured amniotic fluid cells, cultured chorionic villus cells and by direct assay of activity in chorionic villus samples. These studies can be accompanied by ultrastructural observations which give...

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Identifiers

PMID: 9458172
DOI: 10.1111/j.1750-3639.1998.tb00141.x
PMCID: PMC8098505

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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