Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Reference20 articles.
1. Wamelink MM, Valayannopoulos V, Jakobs C (2014) Disorders of Polyol metabolism. In: Blau N, Duran M., Gibson K.M., Dionisi Vici C., Blaskovics, M. E (eds) Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Springer, pp 577-583
2. Rodan LH, Berry GT (2016) N-Acetylcysteine therapy in an infant with transaldolase deficiency is well tolerated and associated with normalization of alpha fetoprotein levels. JIMD Rep 31:73–77
3. Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC et al (2001) Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 68(5):1086–1092
4. Oaks Z, Jimah J, Grossman CC, Beckford M, Kelly R, Banerjee S et al (2020) Transaldolase haploinsufficiency in subjects with acetaminophen induced liver failure. J Inherit Metab Dis 43(3):496–506
5. Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, et al. (2018) Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients. J. Inherit. Metab. Dis :1-11
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