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Article
The long-term efficacy of eltrombopag in children with immune thrombocytopenia
Immune thrombocytopenia (ITP) is the most common autoimmune disorder characterized by decreased platelet counts and impaired platelet production. Eltrombopag has been demonstrated to be safe and effective for ...
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Article
Open AccessClinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders
PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid ...
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Article
Open AccessA de novo ANK1 mutation associated to hereditary spherocytosis: a case report
Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the m...