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 Pers Med. 2025 Mar 4;15(3):102. doi: 10.3390/jpm15030102. ABSTRACT Background/Objectives: It is increasingly realized that the advances in diagnosis and treatment for those born with …
J Pers Med. 2025 Mar 8;15(3):105. doi: 10.3390/jpm15030105. ABSTRACT Background: Short QT syndrome (SQTS) is a rare inheritable channelopathy characterized by a shortened corrected QT …
J Pers Med. 2025 Feb 26;15(3):88. doi: 10.3390/jpm15030088. ABSTRACT Objective: To evaluate visual outcomes, rotational stability, patients’ satisfaction, and spectacle independence after bilateral Toric extended …
J Funct Biomater. 2025 Mar 1;16(3):82. doi: 10.3390/jfb16030082. ABSTRACT (1) The aim of this in vitro study was to investigate the handling of proximal-cervical undermined …
J Fungi (Basel). 2025 Mar 9;11(3):210. doi: 10.3390/jof11030210. ABSTRACT Cystic fibrosis is a severe, inherited, life-limiting disorder, and over half of those living with CF …
