Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2018_116
Reference22 articles.
1. Balasubramaniam S, Wamelink MM, Ngu LH et al (2011) Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. J Pediatr Gastroenterol Nutr 52(1):113–116
2. Engelke UF, Zijlstra FS, Mochel F et al (2010) Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochim Biophys Acta 1802(11):1028–1035
3. Eyaid W, Al Harbi T, Anazi S et al (2013) Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis 36(6):997–1004
4. Fenves AZ, Kirkpatrick HM, Patel VV, Sweetman L, Emmett M (2006) Increased anion gap metabolic acidosis as a result of 5-oxoproline (pyroglutamic acid): a role for acetaminophen. Clin J Am Soc Nephrol 1(3):441–447
5. Grossman CE, Niland B, Stancato C et al (2004) Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase. Biochem J 382(2):725–731
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