neonatal
neonatal

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment

Int J Neonatal Screen. 2025 Sep 12;11(3):77. doi: 10.3390/ijns11030077. ABSTRACT CblC deficiency is the most common intracellular disorder of vitamin B12 metabolism. Expanded newborn screening …

The Burden of Congenital Hypothyroidism Without Newborn Screening: Clinical and Cognitive Findings from a Multicenter Study in Algeria

Int J Neonatal Screen. 2025 Sep 15;11(3):78. doi: 10.3390/ijns11030078. ABSTRACT The absence of biochemical newborn screening (NBS) delays the diagnosis and treatment of congenital hypothyroidism …

Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population

Int J Neonatal Screen. 2025 Sep 3;11(3):74. doi: 10.3390/ijns11030074. ABSTRACT Pompe disease is an autosomal recessive metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency. The …

The reality of neonatal nursing work in Kenya and implications for quality and safety: Direct observation of tasks and time utilisation

Int J Nurs Stud. 2025 Sep 8;172:105204. doi: 10.1016/j.ijnurstu.2025.105204. Online ahead of print. ABSTRACT BACKGROUND: Little is known about how nurses working in care settings …

Clinical Utility of miR-590-5p as a Biomarker for Stratifying Disease Severity and Anticipating Adverse Perinatal Outcomes in Preeclamptic Patients

Am J Hypertens. 2025 Sep 20:hpaf191. doi: 10.1093/ajh/hpaf191. Online ahead of print. ABSTRACT BACKGROUND: Chronic hypertension, gestational hypertension (GH), and preeclampsia (PE) together comprise hypertensive …