Associated Papers
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Serrano-Gonzalo I et al.
International Journal of Molecular Sciences, 2025
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1
Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.
Miyamoto T et al.
Internal Medicine (tokyo, Japan), 2021
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
Siebert M et al.
Jimd Reports, 2013
Detection of 12 new mutations in Gaucher disease Brazilian patients.
Rozenberg R et al.
Blood Cells, Molecules & Diseases, 0
Select a paper to view details