Int J Neonatal Screen. 2025 May 12;11(2):36. doi: 10.3390/ijns11020036. ABSTRACT Newborn screening (NBS) is a nationwide program for the early detection of disability in the …
Int J Neonatal Screen. 2025 May 9;11(2):35. doi: 10.3390/ijns11020035. ABSTRACT Currently, Dutch newborns are screened for tyrosinemia type 1 (TT1) using succinylacetone (SA) as the …
Int J Neonatal Screen. 2025 May 2;11(2):34. doi: 10.3390/ijns11020034. ABSTRACT Gaucher disease (GD) is a lysosomal storage disorder (LSD) characterized by glycosphingolipid accumulation. Age of …
Int J Neonatal Screen. 2025 Apr 29;11(2):33. doi: 10.3390/ijns11020033. ABSTRACT The detection of elevated long-chain acylcarnitine levels, particularly C14:1 and the C14:1/C2 ratio, during neonatal …
Int J Neonatal Screen. 2025 Apr 28;11(2):32. doi: 10.3390/ijns11020032. ABSTRACT Newborn Bloodspot Screening (NBS) can detect severe treatable health conditions with onset during infancy. The …
Int J Neonatal Screen. 2025 Apr 24;11(2):30. doi: 10.3390/ijns11020030. ABSTRACT Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency …
Int J Neonatal Screen. 2025 Apr 23;11(2):29. doi: 10.3390/ijns11020029. ABSTRACT The growing need to identify spinal muscular atrophy (SMA) patients as early as possible has …
Anesthesiology. 2025 May 23. doi: 10.1097/ALN.0000000000005577. Online ahead of print. ABSTRACT BACKGROUND: Perioperative hyperglycemia is associated with adverse patient outcomes including surgical site infections. This …
Microb Genom. 2025 May;11(5). doi: 10.1099/mgen.0.001412. ABSTRACT The process of urbanization has brought with it several novel lifestyles, but it remains to be seen whether …
J Med Internet Res. 2025 May 23;27:e58947. doi: 10.2196/58947. ABSTRACT BACKGROUND: Appropriate outcome assessment strategies and high-quality trials are critical to advancing care of patients …
