ArticleInternational journal of molecular sciences2017
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
Article in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The trial behind it
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Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- FBP1 promotes ABCG2-mediated uric acid excretion through activation of the PI3K/AKT/CREB signaling pathway.Scientific reports · 2025Article
- Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.Italian journal of pediatrics · 2025Observational
- Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.Orphanet journal of rare diseases · 2025Article
- Two Chinese patients with Basilicata-Akhtar syndrome caused by novelTranslational pediatrics · 2025Article
- A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.BMC pediatrics · 2024Article
- A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient.Molecular genetics and metabolism reports · 2024Article
- Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.Molecular genetics and metabolism reports · 2024Article
- Article
- An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.Irish journal of medical science · 2024Review
- Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.BMC endocrine disorders · 2024Article
- Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.Frontiers in genetics · 2024Article
- Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.Communications biology · 2023Article
- Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.BMC endocrine disorders · 2022Article
- Hypoglycaemia Metabolic Gene Panel Testing.Frontiers in endocrinology · 2022Review
- Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.Neurogenetics · 2022Article
- Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.Translational pediatrics · 2021Article
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.Saudi medical journal · 2020Observational
- Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture.Orphanet journal of rare diseases · 2019Article
- Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.Metabolic brain disease · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, autosomal recessive inherited disease caused by the mutation of 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.