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. 2003 Aug;143(2):273-6.
doi: 10.1067/S0022-3476(03)00302-0.

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

Ozlem Goker-Alpan  1 , Raphael Schiffmann, Joseph K Park, Barbara K Stubblefield, Nahid Tayebi, Ellen Sidransky
Affiliations

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

Ozlem Goker-Alpan et al. J Pediatr. 2003 Aug.

Abstract

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 oculomotor abnormalities. There was genotypic heterogeneity among these patients.

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  • Gaucher disease phenotype.
    Di Rocco M, Allegri AE, Grossi S, Filocamo M. Di Rocco M, et al. J Pediatr. 2004 Dec;145(6):860; author reply 860-1. doi: 10.1016/j.jpeds.2004.05.053. J Pediatr. 2004. PMID: 15580222 No abstract available.

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