ReviewWiener medizinische Wochenschrift (1946)2010
Laboratory and genetic evaluation of Gaucher disease.
Review in Wiener medizinische Wochenschrift (1946), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Bone disease in early detected Gaucher Type I disease: A case report.JIMD reports · 2022Article
- Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish.Journal of lipid research · 2022Article
- Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience.Heliyon · 2019Article
- Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.Molecular genetics and metabolism reports · 2016Article
- Cellular Uptake of Glucocerebrosidase in Gaucher Patients Receiving Enzyme Replacement Treatment.Clinical pharmacokinetics · 2016Article
- Oxidative stress parameters of Gaucher disease type I patients.Molecular genetics and metabolism reports · 2015Article
- Revised recommendations for the management of Gaucher disease in children.European journal of pediatrics · 2013Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD) is an inherited lysosomal storage disorder due to deficiency of glucocerebrosidase. Diagnosis of GD may be suspected based on clinical symptoms and confirmed by the analysis of glucocerebrosidase in total white cells, mononuclear cells, fibroblasts and dried blood on filter paper. Low enzyme activities should be followed by molecular analysis of the GBA gene. Although there is no obvious genotype-phenotype correlation, the presence of p.N370S protects from neurological involvement whereas homozygosity of p.L444P mostly leads to a neuronopathic form of GD. Progressive storage of glucosylceramide in mononuclear cells and macrophages results in elevated levels of chitotriosidase and CCL18/PARC which may be used as biomarker to assess disease severity and efficacy of treatment. Chitotriosidase activities cannot be analysed in at least 6% of GD patients due to a null mutation in the corresponding gene.
Indexed as
Identifiers
What OpenQuestion holds
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.