Int J Neonatal Screen. 2025 Mar 13;11(1):22. doi: 10.3390/ijns11010022. ABSTRACT Long-read sequencing (LRS) provides comprehensive genetic information, but research of LRS applied to congenital adrenal …
Int J Neonatal Screen. 2025 Feb 28;11(1):19. doi: 10.3390/ijns11010019. ABSTRACT Newborn screening for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in Kuwait was initiated in October …
Int J Neonatal Screen. 2025 Feb 26;11(1):18. doi: 10.3390/ijns11010018. ABSTRACT Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to …
Int J Neonatal Screen. 2025 Feb 25;11(1):17. doi: 10.3390/ijns11010017. ABSTRACT Wolman disease (WD) is a lethal disorder defined by the deficiency of the lysosomal acid …
Int J Neonatal Screen. 2025 Feb 24;11(1):16. doi: 10.3390/ijns11010016. ABSTRACT Pennsylvania started newborn screening for Pompe disease (PD) in 2016. As a result, the prevalence …
Int J Neonatal Screen. 2025 Feb 21;11(1):15. doi: 10.3390/ijns11010015. ABSTRACT Universal Newborn Screening (NBS) programs (for endocrine, immunologic and metabolic disorders) are effective in reducing …
J Pediatr Hematol Oncol. 2025 Mar 26. doi: 10.1097/MPH.0000000000003022. Online ahead of print. ABSTRACT OBJECTIVES: Evaluate the hematological parameters and indices in the blood count …
J Med Microbiol. 2025 Mar;74(3). doi: 10.1099/jmm.0.001968. ABSTRACT Introduction. Healthcare-associated infections (HAIs) are the leading cause of preventable death in neonatal intensive care units (NICUs), …
Pediatr Int. 2025 Jan-Dec;67(1):e15889. doi: 10.1111/ped.15889. ABSTRACT BACKGROUND: A target unplanned extubation (UE) rate of <1/100 ventilator days has been recommended. Our hospital has 21 …
Front Endocrinol (Lausanne). 2025 Mar 10;16:1523737. doi: 10.3389/fendo.2025.1523737. eCollection 2025. ABSTRACT INTRODUCTION: Skeletal dysplasia (SD) is a large and heterogeneous group of rare genetic disorders …
