Associated Papers
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.
Youssef MAM et al.
Molecular and Cellular Pediatrics, 2025
Atypical case of neonatal-onset Gaucher disease type 3b: A case report.
Onuki T et al.
Molecular Genetics and Metabolism Reports, 2025
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.
Goker-Alpan O et al.
Frontiers in Pediatrics, 2025
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
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K et al.
Molecular Genetics & Genomic Medicine, 2024
38553911 (PubMed )
Supplement: MGG3-12-e2427-s001.docx
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