Associated Papers
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Kılavuz S et al.
Metabolic Brain Disease, 2022
Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease.
Limgala RP et al.
Biomolecules, 2020
A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations.
Wei M et al.
Frontiers in Pediatrics, 2019
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A et al.
Plos One, 2013
24278166 (PubMed )
Supplement: pone.0079732.s001.pdf
Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?
Brunel-Guitton C et al.
Molecular Genetics and Metabolism, 2009
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