Associated Papers
Gaucher Disease: A Glance from a Medicinal Chemistry Perspective.
Prencipe F et al.
Chemmedchem, 2024
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Du X et al.
Medicine, 2018
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
Mattošová S et al.
The Israel Medical Association Journal : Imaj, 2015
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
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
Emre S et al.
European Journal of Medical Genetics, 0
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