Results 91 to 100 of about 1,512,894 (302)

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Frontiers in Genetics
BackgroundInborn errors of metabolism (IEMs) are rare diseases caused by inherited defects in various biochemical pathways that strongly correlate with early neonatal mortality and stunting. Currently, no studies have reported on the incidence of IEMs of
Gang Xiao, Zonghui Feng, Chaochao Xu, Xuzhen Huang, Maosheng Chen, Min Zhao, Yanbin Li, Yang Gao, Shulin Wu, Yuyan Shen, Ying Peng   +10 more
doaj   +1 more source

Newborn screening for thyroid-stimulating hormone as an indicator for assessment of iodine status in the Republic of Macedonia [PDF]

Journal of Medical Biochemistry, 2016
Background: Iodine deficiency is associated with goiter and impaired brain function leading to cretinism. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L on newborn screening points toward an impaired iodine status ...
Anastasovska Violeta, Kocova Mirjana
doaj  

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

BMC Medical Genetics, 2019
Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene.
Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu   +8 more
doaj   +1 more source

Irish Cervical Screening Programme annual report 2005 [PDF]

, 2006
Irish Cervical Screening Programme ...
Irish Cervical Screening Programme (ICSP)
core  

Optical Detection of Cellular Signals at Material Interfaces

Advanced Healthcare Materials, EarlyView.
Emerging functional materials are transforming optical detection of cellular signals. This review highlights optical techniques that exploit the unique optical properties of diverse materials to detect and quantify cellular electrical, chemical, and mechanical signals, and discusses key opportunities and challenges.
Xuchen Ren, Jitong Ren, Zixin Zhang, Koney Eungkon Kim, Francis L. Hong, Yuecheng Peter Zhou   +5 more
wiley   +1 more source

GH Therapy in Non–Growth Hormone-Deficient Children

Children
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD).
Chiara Guzzetti, Anastasia Ibba, Valeria Incandela, Sandro Loche   +3 more
doaj   +1 more source

Synthesis and Characterization of Biocompatible Manganese‐Doped Titania Nanoparticles and Its Application to Single‐Cell Nanoencapsulation

Advanced Materials Interfaces, EarlyView.
Biocompatible Mn‐doped TiO2 nanozymes integrate TiO2 stability with Mn redox activity, enabling dopamine‐mediated cell‐surface polymerization and single‐cell nanoencapsulation while maintaining high colloidal stability, low ROS generation, and excellent cellular compatibility.
Filip Kozłowski, Nayoung Kim, Hyunwoo Choi, Geoffrey Daniel, Gulaim A. Seisenbaeva, Insung S. Choi, Vadim G. Kessler   +6 more
wiley   +1 more source

ASS1 gene mutation in a neonate with citrullinemia type Ⅰ [PDF]

Jichu yixue yu linchuang, 2020
Objective To detect blood acylcarnitine and genes in a newborn with suspected citrullinemia, and to detect gene mutations in their parents, so as to clarify their diagnosis and follow-up investigations.
LYU Ya-nan, SONG Dong-po, WANG Wei-qing, CHEN Yan-ping
doaj  

Effect of case management on neonatal mortality due to sepsis and pneumonia. [PDF]

, 2011
BACKGROUND: Each year almost one million newborns die from infections, mostly in low-income countries. Timely case management would save many lives but the relative mortality effect of varying strategies is unknown.
Bhutta Zulfiqar A, Zulfiqar A Bhutta, Zaidi, Anita K. M., Ganatra, Hammad A, Ganatra Hammad A, Lawn, Joy E, Lawn, Joy E., Lawn Joy E, Joy E Lawn, Cousens Simon, Syed, Sana, Robert Black, Simon Cousens, Zaidi Anita K M, Lee, Anne CC, Black, Robert, Lee Anne CC, Ganatra, Hammad A., Cousens, Simon, Sana Syed, Zaidi, Anita KM, Bhutta, Zulfiqar A, Hammad A Ganatra, Black Robert, Anita K M Zaidi, Bhutta, Zulfiqar A., Anne CC Lee, Lee, Anne C. C., Syed Sana   +28 more
core   +1 more source

Nanoporous Silica Embedded in Nanoporous Platinum: A Versatile Composite Coating for Implant‐Associated Drug Delivery From Neuronal Electrodes

Advanced Materials Technologies, EarlyView.
Nanoporous silica nanoparticles incorporated in nanoporous platinum offer the possibility for implant‐associated drug delivery from neuronal electrodes. ABSTRACT Sensorineural hearing loss, resulting from damage to the hair cells of the inner ear, profoundly impairs quality of life.
Mosaieb Habib, Tim‐Joshua Strauß, Jennifer Harre, Madeleine Goblet, Florian Klodwig‐Kirstein, Jana Schwieger, Michaela Kreienmeyer, Verena Scheper, Athanasia Warnecke, Nina Ehlert, Peter Behrens   +10 more
wiley   +1 more source