doi: 10.1067/S0022-3476(03)00302-0.
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3
Affiliations
- PMID: 12970647
- DOI: 10.1067/S0022-3476(03)00302-0
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Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3
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.
Comment in
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Gaucher disease phenotype.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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