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Article

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

The Journal of pediatrics - 1 Aug 2003

Goker-Alpan Ozlem, Schiffmann Raphael, Park Joseph K, Stubblefield Barbara K, Tayebi Nahid, Sidransky Ellen

Abstract excerpt

Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease, including refractory seizures and...

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Identifiers

PMID: 12970647
DOI: 10.1067/S0022-3476(03)00302-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12970647-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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