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Later, it may present with phenotypic abnormalities resembling Marfan syndrome, osteoporosis, ectopia lentis, and recurrent thrombosis

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Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios

As a class of irreversible common blinding diseases (8), glaucoma is characterized by optic nerve damage and visual field loss, and its pathogenesis is complex, involving multiple factors such as genetics, environment, and lifestyle (911)

Therapeutic strategies simultaneously targeting -syn aggregation and ferroptosis pathways hold promise for modifying disease progression