Associated Papers
Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation.
Bäumges H et al.
Disease Models & Mechanisms, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Fucosidosis: clinical and molecular findings of Turkish patients.
Şanlı ME et al.
The Turkish Journal of Pediatrics, 2022
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Chkioua L et al.
Bmc Medical Genomics, 2021
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.
Stepien KM et al.
Genes, 2020
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.
Ediz SS et al.
Brain & Development, 2016
Mutation identification of Fabry disease in families with other lysosomal storage disorders.
Zampetti A et al.
Clinical Genetics, 2013
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