Associated Papers
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.
Donald A et al.
Orphanet Journal of Rare Diseases, 2020
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Leija-Salazar M et al.
Molecular Genetics & Genomic Medicine, 2019
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
Welford RWD et al.
Human Molecular Genetics, 2018
Novel pathogenic mutations in the glucocerebrosidase locus.
Duran R et al.
Molecular Genetics and Metabolism, 2012
Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis.
Aguilar-Moncayo M et al.
Chemical Communications (cambridge, England), 2012
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