Associated Papers
Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis.
Crivaro A et al.
Molecular Genetics and Metabolism, 2020
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.
Sawkar AR et al.
Chemistry & Biology, 2005
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M et al.
Human Mutation, 2002
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
Tayebi N et al.
American Journal of Medical Genetics, 1997
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
Choy FY et al.
American Journal of Medical Genetics, 1997
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