Results 41 to 50 of about 7,483 (223)

Preparation of a Selective L-Phenylalanine Imprinted Polymer Implicated in Patients with Phenylketonuria

Iranian Journal of Medical Sciences, 2014
Background: Molecular imprinting is a method for synthesizing polymers with structure-selective adsorption properties with applications such as, selectivity binding, drug delivery systems and anti-bodies.
Parvaneh Najafizadeh, Soltan Ahmad Ebrahimi, Mohammad Reza Panjehshahin, Seyed Mahdi Rezayat Sorkhabadi   +3 more
doaj  

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

Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report

Iranian Journal of Public Health, 2017
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity.
Masoumeh RAZIPOUR, Daniz KOOSHAVAR, Elaheh ALAVINEJAD, Seyede Zahra SAJEDI, Neda MOHAJER, Aria SETOODEH, Saeed TALEBI, Mohammad KERAMATIPOUR   +7 more
doaj  

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

Urinary neopterin concentrations vs total neopterins for clinical utility [PDF]

, 1989
Fuchs D, Milstien S, Krämer A, et al. Urinary neopterin concentrations vs total neopterins for clinical utility. Clinical Chemistry. 1989;35(12):2305-2307.Neopterin measurements are especially useful as an early marker in (e.g.) allograft rejections and ...
Fuchs, Dietmar, Goedert, James J., Kaufman, Seymour, Krämer, Alexander , Milstien, Sheldon, Reibnegger, Gilbert, Wachter, Helmut, Werner, Ernst R.   +7 more
core   +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

Breastfeeding follow-up in the treatment of children with phenylketonuria [PDF]

A fenilcetonúria (PKU) ocorre na incapacidade para transformar fenilalanina em tirosina, trazendo efeitos tóxicos para o sistema nervoso central. Tradicionalmente, no tratamento da PKU, o aleitamento materno é substituído por fórmula láctea.
Anastácio-Pessan, Fernanda da Luz, Caldeira, Ana Cláudia Gandara Casarin, Gejão, Mariana Germano, Lamônica, Dionísia Aparecida Cusin, Pedro, Karla Panice, Rolim-Liporacci, Maura Contieri, Stump, Marisdalva Viegas   +6 more
core   +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

Phenylketonuria: a review [PDF]

Postgraduate Medical Journal, 1970
SummaryThe development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling’s (1934) disease of phenylketonuria is not a single entity.In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by ...
openaire   +3 more sources