Results 31 to 40 of about 11,988 (216)

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

In Vivo Dynamic Coronary Arteries Blood Flow Imaging Based on Multi‐Cycle Phase Clustering Ultrafast Ultrasound

Advanced Science, EarlyView.
This study addresses a critical gap in ultrafast ultrasound cardiovascular flow imaging and introduces a transformative approach, Clustering Singular Value Decomposition (cSVD), which enables dynamic cardiovascular flow imaging throughout full cardiac cycle without motion correction and hyper‐fast imaging strategies.
Hao Yu, Jiabin Zhang, Feng Feng, Jinyu Yang, Yu Xia, Yunlong Zhao, Jue Zhang   +6 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing

Human Genomics, 2022
Background Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite ...
Jinshuang Gao, Xiaole Li, Yaqing Guo, Haiyang Yu, Liying Song, Yang Fang, Erfeng Yuan, Qianqian Shi, Dehua Zhao, Enwu Yuan, Linlin Zhang   +10 more
doaj   +1 more source

Safety, tolerability, pharmacokinetics and pharmacodynamics of HSK31858, a novel oral dipeptidyl peptidase‐1 inhibitor, in healthy volunteers: An integrated phase 1, randomized, double‐blind, placebo‐controlled, single‐ and multiple‐ascending dose study

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Dipeptidyl peptidase‐1 (DPP‐1) inhibitors have been studied for the treatment of neutrophil‐mediated inflammatory diseases including bronchiectasis, bronchial asthma and cystic fibrosis. This study evaluated the pharmacokinetics, pharmacodynamics, safety and tolerability of DPP‐1 inhibitor HSK31858 in healthy Chinese volunteers.
Yuhao Wang, Chao Yu, Mengyue Hu, Lu Wang, Meixia Chen, Hanmo Liu, Nan Wu, Jie Hou   +7 more
wiley   +1 more source

Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire

Molecular Genetics and Metabolism Reports, 2020
Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients.
András Gellért Barta, Csaba Sumánszki, Zsófia Turgonyi, Erika Kiss, Erika Simon, Csilla Serfőző, Péter Reismann   +6 more
doaj  

Transendocardial injection of expanded autologous CD34+ cells after myocardial infarction: Design of the EXCELLENT trial

ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.
Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli, François Roubille, Nicolas Meyer, Giulio Pompilio, Lionel Leroux, Philippe Henon, Guillaume Trebuchet, Anthony Criquet, Matthieu de Kalbermatten, Eric Saloux, Alain Manrique, Pierre‐Yves Marie, Deepak L. Bhatt, Scott D. Solomon, Gilles Montalescot, David E. Newby, Faiez Zannad, on behalf of the EXCELLENT Trial Investigators   +17 more
wiley   +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

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

Phenylketonuria (PKU): A problem solved?

Molecular Genetics and Metabolism Reports, 2016
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities.
Uta Lichter-Konecki, Christine S. Brown
openaire   +3 more sources