Results 41 to 50 of about 17,994 (195)

Phenylketonuria (PKU): Screening and Management [PDF]

, 2000
INTRODUCTION Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a ...
de la Cruz, Felix F., Patrias, Karen
core   +1 more source

White and gray matter brain development in children and young adults with phenylketonuria

NeuroImage: Clinical, 2019
Phenylketonuria (PKU) is a recessive disorder characterized by disruption in the metabolism of the amino acid phenylalanine (Phe). Prior research indicates that individuals with PKU have substantial white matter (WM) compromise.
Zoë Hawks, Anna M. Hood, Dov B. Lerman-Sinkoff, Joshua S. Shimony, Jerrel Rutlin, Daniel Lagoni, Dorothy K. Grange, Desirée A. White   +7 more
doaj   +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  

[Phenylketonuria (PKU) in Iceland].

Laeknabladid, 2011
PKU is a metabolic disorder caused by a mutation in the phenylalanine hydroxylase (PAH) gene. Icelandic neonatal screening for PKU started in 1972. The mutation causes a variable [corrected] dysfunction in PAH, that metabolizes phenylalanine (Phe) to tyrosine (Tyr) with the cofactor tetrahydrobiopterin (BH4).
Karl Erlingur, Oddason, Lilja, Eiriksdóttir, Leifur, Franzson, Atli, Dagbjartsson   +3 more
openaire   +2 more sources

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

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 Effects of Coping Strategies Intervention on Strain and Quality of Life among Mothers of Children with Phenylketonuria [PDF]

Egyptian Journal of Health Care
Background: Phenylketonuria is often called PKU. Mothers face multiple problems because they are playing a vital role in caring for sick children for long time, thus helping decreasing strain and promoting health for maintain their wellbeing.
Fatma A. Eiz - Elregal, Aml Reda Mohamed Ebrahem Mansy, Enaam Abd-El latif Farrag Hamza, Mayada Taha Mahmoud Sabea   +3 more
doaj   +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

Culturable gut bacteria lack Escherichia coli in children with phenylketonuria

New Microbes and New Infections, 2019
Phenylketonuria (PKU) is an inherited metabolic disorder that affects phenylalanine metabolism. If left untreated, phenylalanine builds up to harmful levels in the body and may cause intellectual disability and other serious health problems.
W. Al-Zyoud, A. Nasereddin, H. Aljarajrah, M. Saket   +3 more
doaj   +1 more source