Publications by authors named "Diana Doummar"

Objectives: To provide a description of type 2 Gaucher disease. To attempt to define type 2 Gaucher disease within the spectrum of early-onset neuronopathic Gaucher disease.

Background: Type 2 Gaucher disease is a rare disorder due to glucocerebrosidase deficiency that comprises a rapidly progressing neurological degeneration associated with visceral signs.

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