Int J Neonatal Screen. 2025 Oct 10;11(4):92. doi: 10.3390/ijns11040092. ABSTRACT Isovaleric acidemia (IVA, OMIM 243500) is an inherited disorder of leucine metabolism caused by a …
Int J Neonatal Screen. 2025 Oct 14;11(4):94. doi: 10.3390/ijns11040094. ABSTRACT Cystic fibrosis (CF) is an autosomal recessive genetic condition affecting nearly 1 in 4000 newborns. …
Int J Neonatal Screen. 2025 Oct 8;11(4):90. doi: 10.3390/ijns11040090. ABSTRACT Neonatal screening programs for inborn errors of metabolism are essential for early diagnosis and intervention. …
Int J Neonatal Screen. 2025 Sep 30;11(4):88. doi: 10.3390/ijns11040088. ABSTRACT The morbidity/mortality risks of cystic fibrosis (CF) with a delayed diagnosis have made newborn screening …
Int J Neonatal Screen. 2025 Oct 5;11(4):89. doi: 10.3390/ijns11040089. ABSTRACT Clinical trials in spinal muscular atrophy (SMA) have shown that early treatment improves outcomes, prompting …
Int J Neonatal Screen. 2025 Sep 26;11(4):86. doi: 10.3390/ijns11040086. ABSTRACT Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation that …
Intensive Care Med Paediatr Neonatal. 2025;3(1):40. doi: 10.1007/s44253-025-00083-4. Epub 2025 Oct 21. ABSTRACT Infants in intensive care environments encounter numerous stressors which may overlap or …
Pediatr Int. 2025 Jan-Dec;67(1):e70234. doi: 10.1111/ped.70234. ABSTRACT BACKGROUND: Children with right isomerism usually accompany complex congenital heart disease, which is associated with pulmonary atresia, common …
Lancet Reg Health Am. 2025 Sep 29;50:101248. doi: 10.1016/j.lana.2025.101248. eCollection 2025 Oct. ABSTRACT BACKGROUND: The Latin America and the Caribbean (LAC) region will face future …
BMJ Public Health. 2025 Oct 17;3(2):e001939. doi: 10.1136/bmjph-2024-001939. eCollection 2025. ABSTRACT BACKGROUND: Children and families seeking asylum have significant unmet health needs. The Respond service …
