First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias
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- 作者：Iman M. Talaata ; b ; Naglaa M. Kamalc ; d ; nagla.kamal@kasralainy.edu.eg" class="auth_mail" title="E-mail the corresponding author ; Ebtessam H.K. El Melegye ; Hamed A. Alghamdif ; Mohammed F. Aljabrid ; Enas A.A. Abdallahc ; Mohammed Sarare ; Mohamed A. Alshahranib
- 关键词：Pantothenate kinase-associated neurodegeneration ; Eye of the tiger sign ; Sickle cell disease ; β-Thalaasemia ; Hemosiderosis
- 刊名：Annals of Medicine and Surgery
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：5
- 期：Complete
- 页码：11-13
- 全文大小：379 K
文摘
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This is the first report of comorbidity of PKAN, β-thalassemia-major, sickle cell disease and G6PD deficiency.
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We highlight the pathophysiology of comorbidity of PKAN and chronic hemolytic anemias.
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A missense mutation in homozygous status in PANK2 gene on chromosome 20p13.