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

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.

Hepatology communications - 1 Mar 2022

Grammatikopoulos Tassos, Hadzic Nedim, Foskett Pierre, Strautnieks Sandra, Samyn Marianne, Vara Roshni, Dhawan Anil, Hertecant Jozef, Al Jasmi Fatma, Rahman Obydur, Deheragoda Maesha, Bull Laura N, Thompson Richard J

Abstract excerpt

Mutations in the transaldolase 1 (TALDO1) gene have been described in a limited number of cases. Several organs can be affected and clinical manifestations are variable, but often include liver dysfunction and/or hepatosplenomegaly. We report 4 patients presenting with liver disease: 2 with early-onset hepatocellular carcinoma (HCC). Patients with cholestasis and mutations in TALDO1 were identified by...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Enzymes and Metabolism
Share to Biomedical Research and Pathophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carbohydrate Metabolism, Inborn Errors

Share to Carcinoma, Hepatocellular

Share to Infant

Share to Infant, Newborn

Share to Liver Neoplasms

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 34677006
DOI: 10.1002/hep4.1824
PMCID: PMC8870026

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.PMID 34677006Read ↗

A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings.Semantic proximity Read ↗

Transaldolase haploinsufficiency in subjects with acetaminophen‐induced liver failureSemantic proximity Read ↗

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.Semantic proximity Read ↗

Transaldolase deficiency - natural disease course towards adulthood.Semantic proximity Read ↗

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.Semantic proximity Read ↗

Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance.Semantic proximity Read ↗

Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.Semantic proximity Read ↗

TRNT1 deficiency: clinical, biochemical and molecular genetic features.Semantic proximity Read ↗

The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.Semantic proximity Read ↗

Natural history of deoxyguanosine kinase deficiency.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsSemantic proximity Read ↗

Successful liver transplantation in short telomere syndromes without bone marrow failure due to DKC1 mutation.Semantic proximity Read ↗

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