Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12185-021-03240-5.pdf
Reference15 articles.
1. Fermo E, Vercellati C, Marcello AP, Zaninoni A, Aytac S, Cetin M, et al. Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 new cases. Front Physiol. 2019;10:467.
2. Kanno H, Fujii H, Hirono A, Ishida Y, Ohga S, Fukumoto Y, et al. Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. Blood. 1996;88(6):2321–5.
3. Haller JF, Krawczyk SA, Gostilovitch L, Corkey BE, Zoeller RA. Glucose-6-phosphate isomerase deficiency results in mTOR activation, failed translocation of lipin 1α to the nucleus and hypersensitivity to glucose: Implications for the inherited glycolytic disease. Biochim Biophys Acta. 2011;1812(11):1393–402.
4. Repiso A, Oliva B, Vives Corrons JL, Carreras J, Climent F. Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation. Biochim Biophys Acta. 2005;1740(3):467–71.
5. Adama van Scheltema PN, Zhang A, Ball LM, Steggerda SJ, van Wijk R, Fransen van de Putte DE et al. Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report. Clin Case Rep. 2015;3(10):862–5.
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