N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2016_555
Reference7 articles.
1. Al-Shami AM, Ben-Salem S, Hertecant J et al (2015) Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. Eur J Pediatr 174(5):661–668
2. Banne E, Meiner V, Shaag A et al (2015) Transaldolase deficiency: a new case expands the phenotypic spectrum. JIMD Rep
3. Eyaid W, Al Harbi T, Anazi S et al (2013) Transaldolase deficiency: report of 12 new cases and further delineation of phenotype. J Inherit Metab Dis 36:997–1004
4. Hanczko R, Fernandez DR, Doherty E et al (2009) Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine. J Clin Invest 119(6):1546–1557
5. Leduc CA, Crouch EE, Wilson A et al (2014) Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. JIMD Rep 12:121–127
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