ReviewNeurogenetics2025
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.
Review in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 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
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within the lysosomes of monocyte and macrophage cells. Using whole exome sequencing, we found the genetic basis of GD in six Iranian patients. All cases had consanguineous parents. Developmental regression, hepatosplenomegaly and motor delay were the most common signs of these cases. The pathogenic p.L483P (c.1448T > C) variant was found in three patients. Other cases were found to be homozygote for p.D448H (c.1342G > C), p.S235P (c.703T > C) and p.N409S (c.1226 A > G) variants, respectively. This study demonstrates the prevalence of a pathogenic GBA variant among Iranian patients. This information can facilitate molecular diagnosis of GD with lower cost.
Indexed as
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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.