Associated Papers
Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.
Takaleh A et al.
Jcem Case Reports, 2024
Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.
Fallata E et al.
Cureus, 2023
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
Grammatikopoulos T et al.
Hepatology Communications, 2022
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Lafcı NG et al.
Hormones (athens, Greece), 2021
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.
Xue J et al.
Frontiers in Genetics, 2021
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.
Oaks Z et al.
Journal of Inherited Metabolic Disease, 2020
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.
Abu-Farha M et al.
Frontiers in Pharmacology, 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
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.
Rodan LH et al.
Jimd Reports, 2017
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Banne E et al.
Jimd Reports, 2016
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 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: from biochemistry to human disease.
Samland AK et al.
The International Journal of Biochemistry & Cell Biology, 2009
Transaldolase deficiency in a two-year-old boy with cirrhosis.
Wamelink MM et al.
Molecular Genetics and Metabolism, 2008
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].
Lipiński P et al.
Developmental Period Medicine, 0