neonatal
neonatal

COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrum

Am J Med Genet A. 2024 Jun 28:e63804. doi: 10.1002/ajmg.a.63804. Online ahead of print. ABSTRACT Pseudo-TORCH Syndrome (PTS) encompasses a heterogeneous group of genetic disorders …

Development and characterization of the mode-of-action of inhibitory and agonist peptides targeting the voltage-gated sodium channel SCN1B beta-subunit

J Mol Cell Cardiol. 2024 Jun 26:S0022-2828(24)00105-6. doi: 10.1016/j.yjmcc.2024.06.008. Online ahead of print. ABSTRACT Cardiac arrhythmia treatment is a clinical challenge necessitating safer and more …

The effect of live music therapy on white matter microstructure in very preterm infants – A randomized controlled trial

Eur J Paediatr Neurol. 2024 Jun 22;51:132-139. doi: 10.1016/j.ejpn.2024.06.009. Online ahead of print. ABSTRACT OBJECTIVE: Music therapy (MT) is proposed to enrich the acoustic environment …

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia

Mol Genet Metab. 2024 Jun 17;142(4):108516. doi: 10.1016/j.ymgme.2024.108516. Online ahead of print. ABSTRACT Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial …

Effects of tracking linkage self-management mode on the compliance of prenatal examinations and delivery modes in primiparas

Medicine (Baltimore). 2024 Jun 28;103(26):e38494. doi: 10.1097/MD.0000000000038494. ABSTRACT To explore the effects of tracking linkage self-management mode on the compliance of prenatal examinations and delivery …

Mendelian randomization as a cornerstone of causal inference for gut microbiota and related diseases from the perspective of bibliometrics

Medicine (Baltimore). 2024 Jun 28;103(26):e38654. doi: 10.1097/MD.0000000000038654. ABSTRACT Gut microbiota, a special group of microbiotas in the human body, contributes to health in a way …

Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy

PLoS One. 2024 Jun 28;19(6):e0306329. doi: 10.1371/journal.pone.0306329. eCollection 2024. ABSTRACT BACKGROUND: Many newborn screening programs worldwide have introduced screening for diseases using DNA extracted from …