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Article

Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.

American journal of medical genetics. Part A - 15 Jul 2004

Felderhoff-Mueser Ursula, Uhl Johannes, Penzel Roland, Van Landeghem Frank, Vogel Martin, Obladen Michael, Kopitz Jürgen

Abstract excerpt

A subset of patients with type 2 Gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. beta-Glucocerebrosidase (beta-glucosidase) activity is usually low or undetectable. In most...

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PMID: 15214004
DOI: 10.1002/ajmg.a.20445

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15214004-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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