Associated Papers
Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.
Naeem A et al.
Blood Advances, 2023
Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.
Fallata E et al.
Cureus, 2023
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Lafcı NG et al.
Hormones (athens, Greece), 2021
Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency.
Stefanowicz M et al.
Children (basel, Switzerland), 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
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.
Lipiński P et al.
Jimd Reports, 2018
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
Clinical and molecular characteristics of two transaldolase-deficient patients.
Tylki-Szymanska A et al.
European Journal of Pediatrics, 2014
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 two new patients with a relative mild phenotype.
Tylki-Szymańska A et al.
Molecular Genetics and Metabolism, 2009
Replacement of a phenylalanine by a tyrosine in the active site confers fructose-6-phosphate aldolase activity to the transaldolase of Escherichia coli and human origin.
Schneider S et al.
The Journal of Biological Chemistry, 2008
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
Verhoeven NM et al.
Journal of Inherited Metabolic Disease, 2005
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].
Lipiński P et al.
Developmental Period Medicine, 0