Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.
Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling.
Hanna, R; McDonald, MT; Sullivan, JA; Mackey, JF; Krishnamurthy, V; Kishnani, PS
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