Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion
Amal El-Beshlawy,
Azza A. G. Tantawy,
Rabah M. Shawky
et al.
Abstract:Background
Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), type 2 (infantile form, with acute early neurologic manifestation), and type 3 (subacute/chronic neuropathic form). The rarity of the disease and its overlapping symptoms with other diseases increase the delay in diagnosis. The Egyptian cohort of patients with GD is specifically… Show more
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