Results 31 to 40 of about 16,591 (243)

JDong-pku/South-Altyn-Orogen v.1.0

, 2019
<p><a href="https://github.com/JDong-pku/South-Altyn-Orogen/files/4006736/Supporting.Information.S1.docx">Supporting Information S1.docx</a></p ...
JDong-pku
core   +1 more source

Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice

Frontiers in Neurology, 2017
Sleep problems have not been directly reported in phenylketonuria (PKU). In PKU, the metabolic pathway of phenylalanine is disrupted, which, among others, causes deficits in the neurotransmitters and sleep modulators dopamine, norepinephrine, and ...
Eddy A. Van der Zee, Vibeke M. Bruinenberg, Marijke C. M. Gordijn, Marijke C. M. Gordijn, Anita MacDonald, Francjan J. van Spronsen   +5 more
doaj   +1 more source

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

JIMD Reports, 2023
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). If untreated by dietary restriction of phenylalanine intake, impaired postnatal cognitive development results from ...
Malak Ali Alghamdi, Anne O'Donnell‐Luria, Naif A. Almontashiri, Wajeih Y. AlAali, Hebatallah H. Ali, Harvey L. Levy   +5 more
doaj   +1 more source

Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese

Journal of Inborn Errors of Metabolism and Screening, 2019
The phenylketonuria - quality of life (PKU-QOL) questionnaire was developed to assess the impact of phenylketonuria (PKU) and its treatment on the health-related quality of life (HRQL) of patients and their caregivers.
Fabíola Vicente, Elaina Jurecki, Daniela Giovannetti, Ana Rita Ferreira, Efigênia Leite, Luciana Giugliani, Catherine Acquadro   +6 more
doaj   +1 more source

Highly Biomimetic Ectodermal Epithelial Organoids for Epithelial Barrier Stimulation Assays

Advanced Science, EarlyView.
ABSTRACT Evaluating the potential toxicity of pharmaceuticals and biomaterials to ectodermal epithelia, such as the oral mucosa and skin, is indispensable in pre‐clinical assessments. However, this remains a challenge primarily owing to the lack of physiologically relevant and accurate screening models.
Yiming Chen, Yuman Li, Chenyu Deng, Leran Li, Zhewen Hu, Boon Chin Heng, Yuting Niu, Shiyu Sun, Min Gao, Xiaopei Chi, Ying He, Mingming Xu, Ying Huang, Xuliang Deng   +13 more
wiley   +1 more source

ANKS1B in the Nucleus Accumbens Controls Escalated Cocaine Self‐Administration via Regulating CBP‐FoxO3 Complex

Advanced Science, EarlyView.
ANKS1B in the nucleus accumbens plays a critical role in the transition from controlled to escalated cocaine intake. Mechanistically, ANKS1B interacts with CBP to epigenetically suppress FoxO3 through H3K27 acetylation. The ANKS1B‐CBP‐FoxO3 signaling cascade presents a novel theraputic target for the treatment of cocaine addiction.
Liping Yang, Xiaoxuan Wu, Xuan Chen, Chao Peng, Zihang Li, Shumin Gao, Shiqiu Meng, Jing Dong, Dong Wu, Liying Lv, Ying Han, Yanxue Xue, Lin Lu, Jie Shi, Jianfeng Liu, Yan Sun   +15 more
wiley   +1 more source

Segmented Therapeutic Delivery via Acoustic Microbubble Relay

Advanced Intelligent Systems, EarlyView.
An acoustically driven, modular segmented delivery system is presented to overcome mechanical limitations of conventional microcatheters. Oscillating microbubbles generate directional streaming that enables continuous, targeted transport across open, angled segments.
Lei Wang, Yiyang Tang, Yiqiang Wu, Xin Zhang, Tianshi Lyu, Zhen Hua, Tian‐Yun Huang   +6 more
wiley   +1 more source

Our lives with PKU: German patient voices - “Nothing about us without us”

Molecular Genetics and Metabolism Reports
Objectives: Many publications describe experiences of healthcare professionals (HCPs) on managing phenylketonuria (PKU), but literature on the perspectives of individuals with PKU is limited.
Karin Lange, Jens Böhmer, Yvonne Deich, Daniel Dickneite, Pascale Fuchs, Verena Naunheim, Angelika Scholz, Christian Heimbold   +7 more
doaj   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data

Molecular Genetics and Metabolism Reports
Background: Phenylketonuria (PKU) is an inherited metabolic disease. If left untreated, it can lead to severe irreversible intellectual disability and can cause seizures, behavior disturbance, and white matter disease.
Jean-Baptiste Arnoux, Claire Douillard, Francois Maillot, Stéphane Bouée, Christian Jacob, Kim Maren Schneider, Julia Theil, Sybil Charrière   +7 more
doaj   +1 more source