The Infona portal uses cookies, i.e. strings of text saved by a browser on the user's device. The portal can access those files and use them to remember the user's data, such as their chosen settings (screen view, interface language, etc.), or their login data. By using the Infona portal the user accepts automatic saving and using this information for portal operation purposes. More information on the subject can be found in the Privacy Policy and Terms of Service. By closing this window the user confirms that they have read the information on cookie usage, and they accept the privacy policy and the way cookies are used by the portal. You can change the cookie settings in your browser.
Inherited anemias diagnostic workup requires a step-wise algorithm. Causal genes implicated in congenital hemolytic anemia are numerous, making a gene-by-gene approach by Sanger sequencing time consuming, expensive and labour intensive. Targeted resequencing can be of great use in explaining these cases.Six months female presented with neonatal jaundice and negative family history. Clinical and laboratory...
The pathogenesis of two metabolic disorders caused by enzyme defects in the red blood cell leading to hemolytic anemia, and in some cases of glucose phosphate isomerase (GPI) deficiency additionally to neurological impairment was investigated. Rheological studies were performed to determine the influence of a shortage of energy on the deformability of the erythrocytes. The functions of the enzymes...
Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.