Results 161 to 170 of about 220,107 (299)

Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias. [PDF]

Int J Neonatal Screen
Lin Y, Zhong J, Peng W, Zheng F, Wang X.
europepmc   +1 more source

Phenotypic Diversity and Outcomes in Pediatric NMDA Receptor Encephalitis: A 15‐Year Retrospective Study from the Largest Children's Hospital in the United States

Advanced Science, EarlyView.
ABSTRACT Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children.
Alexander J. Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M. Yarimi, Kristen S. Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O. Murray   +9 more
wiley   +1 more source

Editorial: Newborn screening for inborn errors of metabolism volume II. [PDF]

Front Pediatr
Elmonem MA, van den Heuvel LP.
europepmc   +1 more source

Bilirubin as a Modulator of WNK1 Protein Signaling: Implications for Neuroinflammatory Diseases

Advanced Science, EarlyView.
ABSTRACT Previously regarded merely as a potentially harmful waste product of heme catabolism, bilirubin has now emerged as a pleiotropic molecule with potent antioxidant, anti‐inflammatory, and hormone‐like properties. Recent findings have revealed protective effects against cardiovascular, metabolic, autoimmune, and neoplastic diseases, as well as ...
Sri Jayanti, Libor Vítek, Silvia Gazzin, Claudio Tiribelli   +3 more
wiley   +1 more source

Newborn Screening-A Worldwide Endeavour to Protect. [PDF]

Int J Neonatal Screen
Bonham JR, Webster D, Gaviglio A, Khan AH, Howell RR, Schielen PCJI.   +5 more
europepmc   +1 more source

Restoring Iron Homeostasis via Smoothened Inhibition: A Novel Strategy Against Hearing Loss

Advanced Science, EarlyView.
 . ABSTRACT Sensorineural hearing loss (SNHL) induced by noise or aminoglycoside antibiotics is a significant public health concern without any FDA‐approved pharmaceutical therapies. Dysregulation of iron homeostasis and its subsequently induced ferroptosis has increasingly been identified as a key mechanism underlying cochlear hair cell (HC) damage ...
Huanyu Mao, Xiang Li, Yaqi Liao, Liman Liu, Xian Gao, Hailiang Lin, Wenli Ni, Huawei Li, Yan Chen, Wenyan Li   +9 more
wiley   +1 more source

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study. [PDF]

BMJ Open
Anastasi L, Chowdhury A, Ashenden A, Rozek T, Louise J, Lam K, Skinner S, Stallard K, Merlin T, Schubert C, Vogan A, Morris S, Cohen-Woods S, Smith N, Ranieri E, Saxon B, Scott HS, Bratkovic D, Barnett CP, Siu CW, King J, Kassahn KS.   +21 more
europepmc   +1 more source

Hierarchical Channeled Graphitized Nanoarchitecture as a Diagnostic Platform for Maternal Fever Warning

Advanced Science, EarlyView.
This study presents a hierarchically channeled graphitized nanoarchitecture (HPGC‐Z67) as a novel nano‐diagnostic platform. It enables sensitive and efficient N‐glycan extraction from plasma, significantly reducing processing time and cost. The platform identifies pivotal N‐glycans to accurately differentiate between infectious and non‐infectious ...
Yiwen Lin, Ning Li, Heyuhan Zhang, Xufang Hu, Zhiqiang Liu, Chunhui Deng   +5 more
wiley   +1 more source

P600: Maximizing equity in newborn screening via reporting variants of uncertain significance (VUS)

Genetics in Medicine Open
Denise Kay, Carlos Saavedra-Matiz, Jacklyn Dott, Jing Xiao, Michele Caggana   +4 more
doaj   +1 more source

The relationship between mothers' health literacy and their knowledge and attitudes towards newborn screening. [PDF]

J Community Genet
Sert S, Unsal A, Arslantas D, Arslangiray O, Dinleyici M.   +4 more
europepmc   +1 more source