Associated Papers
Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup.
Arafa NA et al.
Molecular Genetics and Metabolism Reports, 2026
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
40097465 (PubMed )
Supplement: 41531_2025_901_MOESM1_ESM.xlsx › Supplementary_Table_4
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
Kim YM et al.
Orphanet Journal of Rare Diseases, 2020
Simultaneous detection of Gaucher's disease and renal involvement of non-Hodgkin's lymphoma: the first Asian case report and a review of literature.
Kim MJ et al.
Annals of Clinical and Laboratory Science, 2012
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