ArticleMolecular genetics and metabolism reports2024
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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Who cites it
1 citing paper in PubMed.
- Utility of continuous glucose monitoring for identifying silent hypoglycemia in fructose-1,6-bisphosphatase deficiency: a pilot prospective evaluation.Frontiers in endocrinology · 2025Article
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9 authors.
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Abstract
Background: FBPase deficiency as an autosomal recessive disorder is due pathogenic variants in the FBP1 gene. It usually presents with hyperlactic acidemia and hypoglycaemia starting from early childhood. Here, genotypes and phenotypes of all reported patients and their distributions are presented. In addition, we present an Iranian family with two affected children presenting with unusual symptoms due to pathogenic variants in the Results: The study included a population of 104 patients with different variants of the Conclusions: This is an unusual presentation of FBPase deficiency with intrafamilial phenotypic variability.
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