Associated Papers
A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings.
Sumer Cosar O et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2026
A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings
Yıldız M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 2023
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Lafcı NG et al.
Hormones (athens, Greece), 2021
Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.
Xue J et al.
Frontiers in Genetics, 2021
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Williams M et al.
Journal of Inherited Metabolic Disease, 2019
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
Lee-Barber J et al.
Jimd Reports, 2019
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Banne E et al.
Jimd Reports, 2016
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Al-Shamsi AM et al.
European Journal of Pediatrics, 2015
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
Eyaid W et al.
Journal of Inherited Metabolic Disease, 2013
Nephrological abnormalities in patients with transaldolase deficiency.
Loeffen YG et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.
Balasubramaniam S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Valayannopoulos V et al.
The Journal of Pediatrics, 2006
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].
Lipiński P et al.
Developmental Period Medicine, 0