Paediatrics
Paediatrics

The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency

Neurogenetics. 2025 Feb 27;26(1):33. doi: 10.1007/s10048-025-00813-y. ABSTRACT Mitochondrial Complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is a progressive neurodegenerative disorder characterized by autosomal …

Development of a Thoracoscopic Model for Birth Defect Esophageal Atresia and Tracheoesophageal Fistula Using Fresh Sheep Tissues

Birth Defects Res. 2025 Mar;117(3):e2458. doi: 10.1002/bdr2.2458. ABSTRACT BACKGROUND: This study aimed to develop an esophageal atresia (EA) model using fresh sheep esophagus, trachea, and …

Community respiratory viruses are generally well-tolerated in hematopoietic stem cell transplant recipients: a brief report from the TRANSPIRE study

Haematologica. 2025 Feb 27. doi: 10.3324/haematol.2024.287107. Online ahead of print. ABSTRACT Not available. PMID:40013392 | DOI:10.3324/haematol.2024.287107