Disorders of Polyol Metabolism
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-642-40337-8_35
Reference17 articles.
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2. 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 36:997–1004
3. 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 119:1546–1557
4. Huck JHJ, Verhoeven NM, Struys EA et al (2004) Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet 74:745–751
5. Jansen G, Muskiet FA, Schierbeek H et al (1986) Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 157:277–293
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway;Hormones;2020-11-07
2. Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism;International Journal of Molecular Sciences;2020-02-11
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