Results 41 to 50 of about 11,988 (216)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU).

PLoS ONE, 2019
IntroductionIn phenylketonuria (PKU), a gene mutation in the phenylalanine metabolic pathway causes accumulation of phenylalanine (Phe) in blood and brain.
Vibeke M Bruinenberg, Danique van Vliet, Els van der Goot, Danielle S Counotte, Mirjam Kuhn, Francjan J van Spronsen, Eddy A van der Zee   +6 more
doaj   +1 more source

Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations

Molecular Genetics and Metabolism Reports, 2020
Background: Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine.
Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson   +5 more
doaj  

New Strategies for the Treatment of Phenylketonuria (PKU) [PDF]

Metabolites, 2014
Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the disease’s clinical features. Treatment of phenylketonuria remains difficult due to progressive decrease in adherence to diet and the presence of neurocognitive defects despite therapy.
Strisciuglio, Pietro, Concolino, Daniela
openaire   +4 more sources

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, EarlyView.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Psychological well‐being of early and continuously treated phenylketonuria patients

JIMD Reports, 2021
Background Despite enormous advances in therapy, phenylketonuria (PKU) remains an incurable, inherited metabolic disease requiring life‐long treatment with potential to negatively impact quality of life and psychological well‐being. Therefore, the aim of
Alena Gerlinde Thiele, Nicole Spieß, Rudolf Ascherl, Maria Arelin, Carmen Rohde, Wieland Kiess, Skadi Beblo   +6 more
doaj   +1 more source

Unified Neural Lexical Analysis Via Two‐Stage Span Tagging

CAAI Transactions on Intelligence Technology, EarlyView.
ABSTRACT Lexical analysis is a fundamental task in natural language processing, which involves several subtasks, such as word segmentation (WS), part‐of‐speech (POS) tagging, and named entity recognition (NER). Recent works have shown that taking advantage of relatedness between these subtasks can be beneficial.
Yantuan Xian, Yefen Zhu, Zhentao Yu, Yuxin Huang, Junjun Guo, Yan Xiang   +5 more
wiley   +1 more source

An injector testbed based on a direct current gun and an interchangeable very high frequency gun for superconducting continuous‐wave free‐electron lasers

Journal of Synchrotron Radiation, EarlyView.
An injector testbed for continuous‐wave free‐electron lasers based on a direct current gun and an interchangeable very high frequency gun is under construction. Its physical design and performance have been studied carefully.The continuous‐wave free‐electron laser (CW‐FEL), based on superconducting radiofrequency (SRF) technology with an electron bunch
Xinmeng Li, Jitao Sun, Yong Yu, Jiahang Shao, Jiayue Yang, Quan Zhou, Hongli Ding, Lei Shi, Kai Tao, Chenglin Guo, Zhigang He, Zhichao Chen, Zhen Chen, Shaohua Peng, Hongfei Wang, Guoqing Zhang, Baichao Zhang, Zongbin Li, Feng Zhao, Wei Wei, Maomao Huang, Wei Wang, Ming Liu, Chaofeng He, Liangbing Hu, Yaqiong Wang, Han Li, Weiming Yue, Xilong Wang, Guorong Wu, Dongxu Dai, Weiqing Zhang, Xueming Yang   +32 more
wiley   +1 more source

The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review

Journal of Pediatrics Review, 2021
Context: Phenylketonuria (PKU) is the most frequent inborn error of metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased phenylalanine in untreated patients with PKU can cause serious intellectual disability; its onerous ...
Nastaran Mojibi, Shabnam Ghazanfari-Sarabi, Seyed Mohammad Bagher Hashemi-Soteh   +2 more
doaj