Results 41 to 50 of about 16,591 (243)

An Adaptation of the Profile of Mood States for Use in Adults With Phenylketonuria

Journal of Inborn Errors of Metabolism and Screening, 2016
Adults with phenylketonuria (PKU) experience disturbances in mood. This study used qualitative and quantitative techniques to adapt the 65-item Profile of Mood States (POMS) for the assessment of key mood domains in adults with PKU.
Elizabeth D. Bacci PhD, Kathleen W. Wyrwich PhD, Katharine S. Gries PhD, Yinpu Chen PhD, Rishabh Jain MS, Laurel Konkol MS, Markus J. Merilainen MD, Haoling H. Weng MD   +7 more
doaj   +1 more source

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Human Genomics, 2023
Background Phenylketonuria (PKU) is a common, congenital, autosomal recessive, metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants.
Chuan Zhang, Pei Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma   +13 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Moving through adulthood: The lived experience of Irish adults with PKU

Frontiers in Psychology, 2022
BackgroundThis paper represents a portion of the findings from one of the first research studies eliciting the lived experience of adults with an early diagnosis of Phenylketonuria (PKU) living in Ireland.
Mary-Ellen O'Shea, Bernadette Sheehan Gilroy, Anna-Marie Greaney, Anita MacDonald   +3 more
doaj   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Challenges in the management of Phenylketonuria in Malta [PDF]

, 2016
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard, Stephen, Attard Montalto, Simon
core  

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  

Cold atmospheric plasma‐mediated tumor microenvironment remodeling for cancer treatment

BMEMat, EarlyView.
Schematic presentation of CAP‐mediated TME remodeling. This review summarizes recent efforts in cold atmospheric plasma (CAP) application in cancer treatment, highlighting the anticancer potential of CAP, molecular mechanisms, and future perspectives for further improvement and clinical translation.
Israr Khan, Qiujie Fang, Cao Fei, Ziyuan Wang, Zhaowei Chen, Guojun Chen, Zhiming Xu, Shu Xu, Zhitong Chen   +8 more
wiley   +1 more source

HUBUNGAN ASUPAN ZAT GIZI DENGAN STATUS GIZI MAHASISWA GIZI SEMESTER 3 STIKES PKU MUHAMMADIYAH SURAKARTA

, 2017
Latar Belakang:.Status gizi merupakan keadaan seseorang yang diakibatkan oleh konsumsi, penyerapan dan penggunaan zat gizi makanan. Masa remaja merupakan masa perubahan yang dramatis dalam diri seseorang.
Tuti Rahmawati
core   +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