ArticleJIMD reports2018
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.
Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Liver Disease in Transaldolase Deficiency: Molecular Basis, Genotype-Phenotype Relationships, and Transplantation Outcomes-A Systematic Review.International journal of molecular sciences · 2026Pooled it
- Long-Term Follow-Up of Patients With Transaldolase Deficiency.Journal of inherited metabolic disease · 2026Article
- Review
- Elevated Erythritol: A Marker of Metabolic Dysregulation or Contributor to the Pathogenesis of Cardiometabolic Disease?Nutrients · 2023Review
- Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency.Children (Basel, Switzerland) · 2021Article
- Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.Journal of inherited metabolic disease · 2020Article
- Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.Frontiers in pharmacology · 2020Review
- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.JIMD reports · 2019Article
- [Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].Developmental period medicineReview
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionTransaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients. Tżhere are few reports regarding the long-term follow-up of these patients.The aim of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO. METHODS AND
resultsWe report four patients who manifested early onset TALDO. They were monitored with systematic clinical and laboratory examinations for 4-13 years. The dominant feature was an early liver injury, with subsequent renal tubulopathy. All patients presented with osteopenia and poor physical development. Our data shows that polyol concentrations seem to decrease with age.
conclusionsIn our patients, a progressive coagulopathy was the most sensitive parameter of liver dysfunction. Nodular fibrosis of the liver developed over the natural course of TALDO. This is the first report of long-term systematic clinical and biochemical monitoring of the disease progress in patients with TALDO.
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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.