Paediatrics
Paediatrics

Genotype – phenotype correlation of Spinal Muscular Atrophy in the era of disease modifying therapies: A tertiary Indian experience

Eur J Paediatr Neurol. 2025 Jun 30;58:5-13. doi: 10.1016/j.ejpn.2025.06.002. Online ahead of print. ABSTRACT AIM: To correlate SMN2 CN with age of disease onset, severity, …

Change in Gasdermin-D gene expression in familial Mediterranean fever compared to healthy children with or without acute infections

Turk J Pediatr. 2025 Jul 6;67(3):361-371. doi: 10.24953/turkjpediatr.2025.5389. ABSTRACT BACKGROUND: Gasdermin-D (GSDMD) is an inflammasome regulator. Pyroptosis and GSDMD-mediated interleukin (IL)-1β secretion abolish in GSDMD-deficient …

Toll-like receptor 7 single nucleotide polymorphism rs3853839 in pediatric patients with immune thrombocytopenia

Turk J Pediatr. 2025 Jul 6;67(3):349-360. doi: 10.24953/turkjpediatr.2025.5412. ABSTRACT BACKGROUND: Immune thrombocytopenia (ITP) is a multifactorial disease involving environmental and genetic factors. This study aimed …