Results 121 to 130 of about 2,257,975 (340)

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

Newborn screening for pompe disease? A qualitative study exploring professional views [PDF]

, 2014
Background: Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a
Cornel, M.C. (Martina), El, C.G. (Carla), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Rigter, T. (Tessel), Weinreich, S.S. (Stephanie S.)   +5 more
core   +1 more source

Impact of high‐risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study [PDF]

, 2023
Kimberly Martin, Mary E. Norton, Cora MacPherson, Zachary Demko, Melissa Egbert, Sina Haeri, Fergal D. Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Noel Strong, Robert M. Silver, Nidhi Vohra, Jon Hyett, Charlly Kao, Hákon Hákonarson, Bo Jacobson, P. Dar   +19 more
openalex   +1 more source

Microneedles From Shape‐Preserving Crosslinked Poly(Vinyl Alcohol) Hydrogels: Minimising Interference in Transdermal Proteomics

Advanced Materials Technologies, EarlyView.
Hydrogel‐forming microneedle patches are developed using shape‐preserving PVA‐PVP hydrogels, with and without chitosan, for minimally invasive transdermal protein biomarker sampling. The optimised patches enable efficient interstitial fluid uptake and proteomic analysis, while minimising interference.
Achmad Himawan, Robert Graham, Fabiana Volpe‐Zanutto, Huanhuan Li, Anjali K. Pandya, Andi Nur Aisyah, Rina Agustina, Juan L. Paris, Juan Dominguez‐Robles, Lalitkumar K. Vora, Andi D. Permana, Christopher J. Scott, Ryan F. Donnelly   +12 more
wiley   +1 more source

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2019

International Journal of Neonatal Screening, 2020
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Unraveling the metabolomic architecture of autism in a large Danish population-based cohort

BMC Medicine
Background The prevalence of autism in Denmark has been increasing, reaching 1.65% among 10-year-old children, and similar trends are seen elsewhere.
Filip Ottosson, Francesco Russo, Anna Abrahamsson, Nadia MacSween, Julie Courraud, Kristin Skogstrand, Olle Melander, Ulrika Ericson, Marju Orho-Melander, Arieh S. Cohen, Jakob Grove, Preben Bo Mortensen, David M. Hougaard, Madeleine Ernst   +13 more
doaj   +1 more source

Chlamydia trachomatis infection and the risk of perinatal mortality in Hungary [PDF]

, 2001
Introduction: Chlamydial infections of the genital tract are thought to often lead to preterm birth, which is the most important perinatal problem in Hungary.
Ancel Y, Bashir SA, Muh DH, Newhall WJ, Orfila J, Richardson S, Rogan WJ, Sweet RL, Trachtenberg AI   +8 more
core   +1 more source

Therapeutic Antibodies for Mosquito‐Borne Orthoflavivirus Infections: Discovery, Engineering Approaches, and Advances in mRNA‐Based Delivery Systems

Advanced Therapeutics, EarlyView.
This review explores how antibody engineering and display technologies are driving therapeutic advances against mosquito‐borne orthoflaviviruses such as Zika, dengue, and yellow fever viruses. It highlights diverse neutralizing targets on the envelope protein, including the conserved fusion loop, and discusses how Fc engineering, rational antigen ...
Ana Clara Barbosa Antonelli, Lucas Silva Rodrigues, Maria Clara Moura Pinheiro, Sylvia Barbosa Pinhate, Marcelo de Macedo Brígido, Andréa Queiroz Maranhão   +5 more
wiley   +1 more source