ArticleMolecular genetics and metabolism reports2020
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.Human genomics · 2026Pooled it
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.The American journal of case reports · 2026Article
- Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution.Cureus · 2026Article
- Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.International journal of molecular sciences · 2025Article
- 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.Molecular and cellular pediatrics · 2025Article
- [A case of adult Gaucher's disease mainly initially manifested as hepatosplenomegaly].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- [Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Article
- A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach.International journal of biological sciences · 2024Review
- The molecular mechanism of Gaucher disease caused by compound heterozygous mutations inFrontiers in pediatrics · 2023Article
- Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.Molecular genetics and metabolism reports · 2022Article
- Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna.Wiener klinische Wochenschrift · 2022Article
- Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.Journal of neural transmission (Vienna, Austria : 1996) · 2022Article
- Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Molecular genetics and metabolism · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.