Results 41 to 50 of about 25,909 (224)

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

Frontiers in Neurology, 2019
Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease.
Shuna Chen, Mingqin Zhu, Yulei Hao, Jiachun Feng, Ying Zhang   +4 more
doaj   +1 more source

Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report

Journal of Craniomaxillofacial Research, 2020
This article reports a 13-year-old boy with phenylketonuria and multiple superficial mucoceles on his lower lip. Phenylketonuria (PKU) is a serious and rare genetic disorder that affects the levels of amino acids such as phenylalanine in the body.
Mahsa Alavi Namvar, Sona Rafieyan, Behzad Fathi Afkari   +2 more
doaj   +1 more source

Assessing Phenylalanine Blood Level in Children With Phenylketonuria in Southern Khorasan Province and Determining the Affecting Social and Demographic Factors

Journal of Pediatrics Review, 2022
Background: Phenylketonuria is a metabolic disorder resulting from a defect in phenylalanine metabolism with a global prevalence of 1 in 10000. Delayed initiation of dietary modification leads to brain injury and cognitive and behavioral problems.
Tayebeh Chahkandi, Bita Bijari, Niloofar Hamidi Laeen, Sayeh Shaban, Emad Asgari Jafarabadi   +4 more
doaj  

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

Elektronički Zbornik Radova Veleučilišta u Šibeniku, 2022
Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
doaj   +1 more source

Body Biofluids for Minimally‐Invasive Diagnostics: Insights, Challenges, Emerging Technologies, and Clinical Potential

Advanced Healthcare Materials, EarlyView.
Recent advances in diagnostics have accelerated the development of miniaturized wearable technologies for the continuous monitoring of diseases. This paradigm is shifting healthcare away from invasive, centralized blood tests toward decentralized monitoring, using alternative body biofluids.
Lanka Tata Rao, Chandan Kumar Mandal, Fernando Patolsky   +2 more
wiley   +1 more source

Neurological images in phenylketonuria (PKU)

Acta Pediátrica de México, 2014
Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging
Juan Francisco Cabello
doaj   +1 more source

Single‐Field Evolution Rule Governs the Dynamics of Representational Drift in Mouse Hippocampal Dorsal CA1 Region

Advanced Science, EarlyView.
Long‐term hippocampal place‐code dynamics are investigated using calcium imaging across weeks of maze navigation. Analyses reveal a novelty‐irrelevant Single‐Field Evolution Rule (SFER), where active fields promote persistence and inactive fields decline.
Cong Chen, Shuyang Yao, Sihui Cheng, Jiayi Tian, Ang Li, Yusen Yan, Xiang Zhang, Yuanjing Liu, Yumeng Wang, Qichen Cao, Chenglin Miao   +10 more
wiley   +1 more source

Comprehensive Profiling of N6‐methyladnosine (m6A) Readouts Reveals Novel m6A Readers That Regulate Human Embryonic Stem Cell Differentiation

Advanced Science, EarlyView.
This research deciphers the m6A transcriptome by profiling its sites and functional readout effects: from mRNA stability, translation to alternative splicing, across five different cell types. Machine learning model identifies novel m6A‐binding proteins DDX6 and FXR2 and novel m6A reader proteins FUBP3 and L1TD1.
Zhou Huang, Rucong Liu, Zibaguli Wubulikasimu, Wanqing Zhao, Jiaqi Huang, Jiaxuan Wang, Tianyuan Zhang, Rui Fan, Wei Kong, Qinghua Cui, Yang Li, Yuan Zhou   +11 more
wiley   +1 more source

Gradient Ion Beams Regulate Surface Group Modification to Enhance Interfacial Charge Transport in Triboelectric Polymers

Advanced Science, EarlyView.
This study addresses the core scientific question of atomic‐scale structural units and their assembly mechanisms by integrating ion implantation technology— originally developed in nuclear physics research—with flexible intelligent polymers. Through this interdisciplinary approach, we have enabled on‐demand customization of surface functionalities and ...
Yi Chen, Yuliang Yao, Xinya Shen, Meiling Gong, Chuan Xu, Chunliang Zhou, Fuqiu Ma, Jian Zhang, Xiangyu Chen, Yanxia Liang, Engang Fu, Yong Fan   +11 more
wiley   +1 more source