paediatrics
paediatrics

Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening

J Clin Immunol. 2025 Feb 11;45(1):74. doi: 10.1007/s10875-025-01863-5. ABSTRACT Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined …

Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing

Genet Med. 2025 Feb 7:101374. doi: 10.1016/j.gim.2025.101374. Online ahead of print. ABSTRACT PURPOSE: Prior studies investigating the genetic architecture of pediatric motor speech disorders (MSDs) …

Acute and persistent changes in neural oscillatory activity predict development of epilepsy following acute organophosphate intoxication in adult rats

Epilepsia. 2025 Feb 11. doi: 10.1111/epi.18212. Online ahead of print. ABSTRACT OBJECTIVE: Acute organophosphate (OP) intoxication affects a significant number of individuals worldwide. Those who …