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Author

Alper Özcan

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Review Open access Aug 2026

Osteopetrorickets and calcium homeostasis in children with osteopetrosis: an endocrinological single-center study

Osteopetrorickets is a frequent and clinically significant complication of pediatric osteopetrosis, and genotype-based treatment planning, and close surveillance for rebound hypercalcemia after transplantation are essential to improve outcomes.

Ebru Gök, E. Sarıkaya, Leyla Kara et al. · 0 citations
Case report Aug 2026

A novel FLNA p.Pro2469Ser variant is associated with impaired T and NK cell function and immune dysregulation

Findings indicate that the FLNA p.Pro2469Ser variant identified in a pediatric patient presenting with recurrent infections and inflammatory manifestations is associated with altered immune-cell signaling, disturbed cortical cytoskeletal organization, and immune dysregulation.

Ş. Erdem, A. Kısaarslan, M. B. Acar et al. · 0 citations
Aug 2026

Eltrombopag-associated remodeling of the MAIT, MR1+ and γδ T cells in pediatric immune thrombocytopenia.

Pediatric immune thrombocytopenia (ITP) is an autoimmune cytopenia characterized by immune-mediated platelet destruction and impaired thrombopoiesis. Mucosa-associated invariant T (MAIT) cells are innate-like T cells activated by MR1-presented microbial metabolites and inflammatory cytokines, but their role in pediatri...

Ekrem Ünal, Z. B. Azizoğlu, Metin Çil et al. · 0 citations

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