Associated Papers
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
Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.
Oaks Z et al.
Journal of Inherited Metabolic Disease, 2020
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
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 - clinical outcome, pathogenesis, diagnostic process].
Lipiński P et al.
Developmental Period Medicine, 0
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