Associated Papers
Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease.
Fang Z et al.
Frontiers in Neuroscience, 2026
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
39572736 (PubMed )
Supplement: 43587_2024_760_MOESM3_ESM.xlsx › Supplementary_Table_9
Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China.
Maimaititusvn G et al.
Frontiers in Pediatrics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
Zhang JH et al.
Annals of Hematology, 2024
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
[Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].
Zhang TB et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
Mohamed FE et al.
Frontiers in Pharmacology, 2024
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Zhou Y et al.
Npj Parkinson's Disease, 2023
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023
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
A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients.
Jin H et al.
Neuroscience Letters, 2018
Clinical and molecular characteristics of patients with Gaucher disease in Southern China.
Feng Y et al.
Blood Cells, Molecules & Diseases, 2018
Successful newborn screening for Gaucher disease using fluorometric assay in China.
Kang L et al.
Journal of Human Genetics, 2017
Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
Yu Z et al.
Journal of Human Genetics, 2015
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