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Article

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Journal of medical genetics - 1 Feb 1996

Sidransky E, Tayebi N, Stubblefield B K, Eliason W, Klineburgess A, Pizzolato G P, Cox J N, Porta J, Bottani A, DeLozier-Blanchet C D

Abstract excerpt

It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex all...

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Identifiers

PMID: 8929950
DOI: 10.1136/jmg.33.2.132
PMCID: PMC1051839

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8929950-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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