Results 141 to 150 of about 1,922,511 (410)

Mass screening of the newborn for metabolic disease. [PDF]

, 1968
L. I. Woolf
openalex   +1 more source

Economic Evaluation of Newborn Hearing Screening: Modelling Costs and Outcomes [PDF]

, 2010
Objectives: The prevalence of newborn hearing disorders is 1-3 per 1,000. Crucial for later outcome are correct diagnosis and effective treatment as soon as possible. With BERA and TEOAE low-risk techniques for early detection are available.
Grill, Eva, Hessel, Franz, Kunze, Silke, Nickisch, Andreas, Schnell-Inderst, Petra, Siebert, Uwe, von Voß, Hubertus, Wasem, Jürgen   +7 more
core  

Bilirubin Targeting WNK1 to Alleviate NLRP3‐Mediated Neuroinflammation

Advanced Science, EarlyView.
At physiological concentrations, bilirubin binds to the kinase domain of WNK1, thereby augmenting its activity and facilitating the phosphorylation of downstream SPAK/OSR1. This phosphorylation inhibits KCC2 activity, leading to elevate intracellular chloride levels in neurons.
Linfei Mao, Jiayu Lu, Quanjun Yang, Zhenqi Liu, Cuiping Wu, Bingbing Ke, Kaiyan Su, Haolin Yuan, Yaqi Cui, Yao Wang, Richard Salvi, Guang Yang, Shankai Yin, Feng Liu, Chunyan Li   +14 more
wiley   +1 more source

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

International Journal of Neonatal Screening, 2017
Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease.
Joseph J. Orsini, Michele Caggana
doaj   +1 more source

Screening of newborns for sex chromosomal abnormalities by a fluorescent technique [PDF]

, 1971
Arnold Greensher, Robert Gersh, David Peakman, Arthur Robinson, William E. Hathaway   +4 more
openalex   +1 more source

Iowa EHDI News, Winter 2008 [PDF]

Program newsletter used to communicate with parents and professionals about newborn hearing screening in Iowa, including best practice and family ...

core  

Newborn screening for cystic fibrosis [PDF]

, 2016
Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was first recognised, the performance of newborn blood spot screening (NBS) has been continually assessed and its use
Castellani, C, Massie, J, Sontag, M, Southern, KW   +3 more
core   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Transitioning into Adulthood with PKU: The Role of Diet, Coping Strategies, and Quality of Life in Adolescents and Young Adults

Psychology International
Background: Phenylketonuria (PKU) is a rare metabolic disorder requiring lifelong dietary treatment. Adolescents and young adults face unique challenges in managing the condition, often compromising adherence and psychological well-being.
Chiara Cazzorla, Giacomo Gaiga, Silvia Medici, Ludovica Martino, Vincenza Gragnaniello, Rossana Schiavo, Alessandro P. Burlina, Alberto B. Burlina   +7 more
doaj   +1 more source

Genetic Counselling and Social Aspects of Prenatal and Newborn Population Screening [PDF]

, 1972
Valerie Cowie
openalex   +1 more source