Results 51 to 60 of about 42,228 (218)

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

Insights from meta‐analysis for efficient docosahexaenoic acid production in thraustochytrids through advanced cultivation and fermentation strategies

Biofuels, Bioproducts and Biorefining, EarlyView.
Abstract This systematic review examines strategies for docosahexaenoic acid (DHA) production by thraustochytrids, focusing on cultivation techniques, fermentation technologies, and carbon/nitrogen optimization to increase productivity. Among 169 eligible articles, the 100 most productive studies (0.7–10.3 g DHA L−1 per day) were analyzed. Quantitative
Jhiovana Cristielly Carrera Silva da Costa, Lucas Araújo Guimarães, Andre da Luz de Freitas, Luciana Porto de Souza Vandenberghe, Gilberto Vinícius de Melo Pereira, Carlos Ricardo Soccol, Hervé Louis Ghislain Rogez   +6 more
wiley   +1 more source

The Early History of PKU

International Journal of Neonatal Screening, 2020
The story of phenylketonuria (PKU) started in 1934 with Asbjørn Følling’s examination of two mentally retarded siblings from a Norwegian family. However, if their mother had not been so persistent in her search for somebody who could give her a reason ...
Louis I. Woolf, John Adams
doaj   +1 more source

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

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  

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

Clinical Conditions and History of Illness Among Terminal Chronic Kidney Disease Patients [PDF]

, 2019
End-stage renal disease (ESRD) is one of the public health problems in Indonesia. This study aimed to determine the clinical condition of premorbid and the incidence of ESRD. The study design is a case-control.
Adiningrat, A. (Arya), Akrom, A. (Akrom), Hidayati, T. (Titiek)   +2 more
core   +4 more sources

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

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

New Insights on Low Energy $\pi N$ Scattering Amplitudes

, 2018
The $S$- and $P$- wave phase shifts of low-energy pion-nucleon scatterings are analysed using Peking University representation, in which they are decomposed into various terms contributing either from poles or branch cuts.
Wang, Yu-Fei, Yao, De-Liang, Zheng, Han-Qing   +2 more
core   +1 more source