Therapeutic options for rare congenital (hemoglobinopathies, membrane and enzyme
defects, congenital dyserythropoietic anemia) and acquired anemias [warm autoimmune …

Gene therapy in pediatrics represents a cutting-edge therapeutic strategy for treating a
range of genetic disorders that manifest in childhood. Gene therapy involves the …

新生儿非获得性溶血性疾病是新生儿期常见的疾病, 其病因复杂多样, 又因临床表现及极其相近
故常导致漏诊或者误诊. 主要是由红细胞先天性缺陷, 包括红细胞酶缺陷, 红细胞形态异常 …

Preclinical and clinical evidence indicate that pyruvate kinase activators represent new
therapeutic option in hemoglobinopathies or SCD. Other red cell disorders such as …

Abstract 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin (2, 3, 7, 8-TCDD) is the most toxic congener of
dioxin and has serious long-term effects on the environment and human health. Pyruvate …

The red blood cells (RBCs) are essential to transport oxygen (O2) and nutrients throughout
the human body. Changes in the structure or functioning of the erythrocytes can lead to …

Pyruvate kinase (Pyk) is a rate-limiting enzyme that catalyzes the final metabolic reaction in
glycolysis. The importance of this enzyme, however, extends far beyond ATP production, as …

Background—This review provides a comprehensive overview of rare anemias,
emphasizing their hereditary and acquired causes, diagnostic advancements, and evolving …

Pyruvate kinase (PK) deficiency, a rare, congenital haemolytic anaemia caused by
mutations in the PKLR gene, is associated with many clinical manifestations, but the full …

Pyruvate kinase (PK) deficiency is a rare genetic disorder that affects this critical enzyme
within the glycolysis pathway. In recent years, Mitapivat (MTPV, AG-348) has emerged as a …