Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.

Genes - 10 Nov 2021

Grünert Sarah C, Schumann Anke, Baronio Federico, Tsiakas Konstantinos, Murko Simona, Spiekerkoetter Ute, Santer René

Abstract excerpt

Fanconi-Bickel syndrome (FBS) is a very rare but distinct clinical entity with the combined features of hepatic glycogen storage disease, generalized proximal renal tubular dysfunction with disproportionately severe glucosuria, and impaired galactose tolerance. Here, we report five cases (out of 93 diagnosed in our lab) with pathogenic variants on both GLUT2 (SLC2A2) alleles. They come from 3 families and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Fanconi Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucose

Share to Glucose Transporter Type 2

Share to Homozygote

Share to Infant

Share to Pedigree

Share to Xenopus

Source

Open in PubMed Open full text

Identifiers

PMID: 34828390
DOI: 10.3390/genes12111785
PMCID: PMC8622088

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.PMID 34828390Read ↗

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.Semantic proximity Read ↗

Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.Semantic proximity Read ↗

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.Semantic proximity Read ↗

Understanding the role of GLUT2 in dysglycemia associated with Fanconi-Bickel syndromeSemantic proximity Read ↗

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.Semantic proximity Read ↗

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.Semantic proximity Read ↗

Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.Semantic proximity Read ↗

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe HypokalemiaSemantic proximity Read ↗

Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.Semantic proximity Read ↗

No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.Semantic proximity Read ↗

Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.Semantic proximity Read ↗

Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.