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- Clinical Experience with Eliglustat in Pediatric Gaucher Disease Type 1 (GD1)
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Medical Article
Introduction: Gaucher disease (GD) is a lysosomal storage disorder caused by biallelic mutations in the GBA1 gene, resulting in deficiency of lysosomal acid β-glucosidase and accumulation of glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph) within macrophages (1). Clinical manifestations in children may include hematologic abnormalities, h

Clinical Experience with Eliglustat in Pediatric Gaucher Disease Type 1 (GD1)
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