Associated Papers
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
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.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
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease.
Park HW et al.
Gene, 2012
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.
Lee JY et al.
Korean Journal of Pediatrics, 2012
Clinical and genetic characteristics of Korean patients with Gaucher disease.
Jeong SY et al.
Blood Cells, Molecules & Diseases, 2011
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details