Results 31 to 40 of about 19,693 (207)

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

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

A Critical Time Window of Neocortex Modulation for Remote Fear Memory in Rats and Humans

Advanced Science, EarlyView.
This study identifies a delayed consolidation window around 18 h after fear learning in the mPFC essential for remote fear memory. VTA dopaminergic input during this window sustains remote memory in rats, while non‐invasive stimulation of homologous human mPFC at the corresponding time selectively weakens remote but not recent fear memory, revealing a ...
Lu Cao, Yu‐Xin Zhang, Xiao‐Xing Liu, Zi‐Hang Li, Tang‐Sheng Lu, Jia‐Hui Deng, Wen Zhang, Peng Li, Xiao Lin, Shu‐Fei Feng, Ting‐Ting Li, Shi‐Qiu Meng, Xiang‐Dong Tang, Tian‐Ye Jia, Trevor W. Robbins, Jie Shi, Ying Han, Yan‐Xue Xue, Lin Lu, Kai Yuan   +19 more
wiley   +1 more source

Retrospective Grid Cells in the Medial Entorhinal Cortex Encode Past Paths During Spatial Navigation

Advanced Science, EarlyView.
Retrospective grid cells are identified in the medial entorhinal cortex, with spatial firing patterns that become most grid‐like when activity is projected onto recently traversed locations. Their coding loses spatial precision in darkness and is disrupted during assisted movement, indicating that entorhinal representations incorporate recent path ...
Ruojin Liu, Xin Yuan, Zilong He, Hong Jin, Jiayi Tian, Cong Chen, Yuanjing Liu, Xiang Zhang, Shidan Wen, Emilio Kropff, Chenglin Miao   +10 more
wiley   +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

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

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