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Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?

Prenatal diagnosis - 1 Oct 2010

Eitan Yael, Abrahamov Ayala, Phillips Mici, Elstein Deborah, Zimran Ari

Abstract excerpt

OBJECTIVE: Although prenatal diagnosis and genotyping are available for Gaucher disease, genetic counseling for an affected child's parents reflects the inability to predict disease course with certainty. The purpose of this survey is to ascertain disease status of children identified by prenatal screening. METHODS: All carrier couples for glucocerebrosidase mutations who were counseled at our large Gaucher...

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PMID: 20721872
DOI: 10.1002/pd.2584

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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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