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  • Title: Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
    Author: Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E.
    Journal: J Pediatr; 2003 Aug; 143(2):273-6. PubMed ID: 12970647.
    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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