ArticleOrphanet journal of rare diseases2018
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.Scientific reports · 2021Trial
- A 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics.Molecular genetics and metabolism reports · 2026Article
- Public attitudes toward the research use and storage of residual dried blood spots from newborn screening in China.BMC medical ethics · 2025Article
- Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.Journal of clinical medicine · 2024Article
- [Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Article
- Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.International journal of neonatal screening · 2023Article
- Article
- Family caregivers of rare disease: A survey on health-related quality of life in family caregivers for Gaucher disease patients in China.Molecular genetics & genomic medicine · 2021Article
- Economic burden and health related quality of life of ultra-rare Gaucher disease in China.Orphanet journal of rare diseases · 2021Article
- Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease.Journal of blood medicine · 2021Review
- Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.Internal medicine (Tokyo, Japan) · 2021Observational
- A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.Scientific reports · 2020Article
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Authors and funding
12 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) children in China, and to investigate the GD prevalence in this selected population.
methodsChildren were recruited from 20 departments of pediatrics or children's hospitals in Shandong Province, China, due to splenomegaly and/or thrombocytopenia associated with one or more of the following creteria: anemia, history of bone pain, monoclonal gammopathy of unknown significance (MGUS), polyclonal gammopathy and splenectomy. GBA activity on DBS was tested, and patients with DBS GBA activity under 30 nmol/h.ml were recalled to assess enzyme assay with gold standard and molecular GBA gene analysis on leukocytes.
resultsA total of 73 children (47 boys and 26 girls) were enrolled in this study. GBA activity DBS < 30 nmol/h.ml was found in 18 (23.7%) children among which four (three boys and one girl) were diagnosed as GD with a median age 1.5 years, and the prevalence in this pediatric population was 5.5% (1.5%~ 13.4%). Three new mutations of GBA found in the four GD patients, L264I, A100Cfs*7 and D399E, have not been reported before.
conclusionsWith evaluation of GBA activity on DBS as a preliminary screening method, the diagnostic algorithm used in this study is appropriate to make early diagnosis for GD patients with mild symptoms or atypical symptoms and avoid diagnosis delay.
trial registrationNot applicable.
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