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Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIMExpand
Red blood cells, platelets and polymorphonuclear neutrophils of patients with sickle cell disease exhibit oxidative stress that can be ameliorated by antioxidants
Sickle cell disease (SCD) is basically a red blood cell (RBC) disorder characterised by sickling and haemolysis, but platelets and polymorphonuclear neutrophils (PMN) are also involved. OxidativeExpand
Renal function in children with β-thalassemia major and thalassemia intermedia
In β-thalassemia, profound anemia and severe hemosiderosis cause functional and physiological abnormalities in various organ systems. In recent years, there have been few published studiesExpand
Procalcitonin as a marker of acute pyelonephritis in infants and children
Abstract In the absence of specific symptomatology in children, the early diagnosis of acute pyelonephritis is a challenge, particularly during infancy. In an attempt to differentiate acuteExpand
Paediatric cerebral sinus vein thrombosis. A multi-center, case-controlled study.
The etiology and pathophysiology of cerebral sinus venous thrombosis (CSVT) in the paediatric population is still poorly understood, and the role of thrombophilic risk factors remains to beExpand
Procalcitonin as a Diagnostic Aid in Osteomyelitis and Septic Arthritis
Objectives: Plasma procalcitonin (PCT) increases rapidly during bacterial infections but remains low in viral infections and other inflammatory processes. High plasma PCT typically occurs in childrenExpand
Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events.
We characterized nearly 500 beta-thalassemia genes from the Israeli population representing a variety of ethnic subgroups. We found 28 different mutations in the beta-globin gene, including threeExpand
Community-Acquired Urinary Tract Infection in Hospitalized Children
Urinary tract infection (UTI) is common in infants and children, and Escherichia coli is the leading pathogen. The aims of this study were to compare first episode of UTI with recurrent infection,Expand
Pulmonary hypertension in patients with thalassemia major.
To evaluate the pulmonary artery pressure in patients with thalassemia major, Doppler echocardiography was performed in 33 patients with thalassemia major (aged 2 to 24 years) and 33 normal controls.Expand
Response to hydroxyurea therapy in β‐thalassemia
Although a relatively small number of previous studies suggest a modest response to hydroxyurea (HU) therapy in β‐thalassemia, more recent investigations have revealed that some transfusion‐dependentExpand