Associated Papers
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort
Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.
Fallata E et al.
Cureus, 2023
Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.
Xue J et al.
Frontiers in Genetics, 2021
Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.
Oaks Z et al.
Journal of Inherited Metabolic Disease, 2020
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
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
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.
Leduc CA et al.
Jimd Reports, 2014
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].
Lipiński P et al.
Developmental Period Medicine, 0
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ et al.
Molecular Genetics and Metabolism, 0
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