Hemolytic Anemia and Neurological Manifestations – An Uncommon Combination
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s12098-019-02997-2.pdf
Reference8 articles.
1. Jacobasch G, Rapoport SM. Hemolytic anemias due to erythrocyte enzyme deficiencies. Mol Aspects Med. 1996;17:143–70.
2. Kedar PS, Dongerdiye R, Chilwirwar P, et al. Glucose phosphate isomerase deficiency: high prevalence of p.Arg347His mutation in Indian population associated with severe hereditary non-spherocytic hemolytic anemia coupled with neurological dysfunction. Indian J Pediatr. 2019. https://doi.org/10.1007/s12098-019-02928-1 .
3. Eber SW, Gahr M, Lakomek M, Prindull G, Schröter W. Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants. Blut. 1986;53:21–8.
4. Walker JI, Layton DM, Bellingham AJ, Morgan MJ, Faik P. DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. Hum Mol Genet. 1993;2:327–9.
5. Kugler W, Breme K, Lespe P, et al. Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. Hum Genet. 1998;103:450–4.
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