Results 31 to 40 of about 18,914 (186)

Maternális phenylketonuria [Maternal phenylketonuria]

, 2013
Phenylketonuriában szenvedő várandós anya vérének emelkedett phenylalanin-koncentrációja a magzatra teratogén hatással van, embryo-foetopathiát okoz. Élveszülés esetén a kórkép jellemzői az intrauterin sorvadás, az általában jelentős fokú pszichomotoros ...
János Bókay, Kiss, Erika, Kiss Erika, Szőnyi László, Erika Simon, Erika Kiss, Bókay János, Simon Erika, Bókay, János, László Szőnyi, Szőnyi, László, Simon, Erika   +11 more
core   +1 more source

Phenylalanine effects on brain function in adult phenylketonuria [PDF]

, 2021
Objective: To evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adult phenylketonuria patients.Methods: In this prospective cross-sectional study, early-treated phenylketonuria patients
Eva Schaeffer, Edytha Leks, Schulte, C., Klaus Scheffler, Scheffler, Klaus, Friedrich Trefz, Carl M. Zipser, Leks, E., Christian Deuschle, Hauser, Ann Kathrin, Leks, Edytha, Schaeffer, E., Inga Liepelt-Scarfone, Deuschle, C., Pilotto, A., Schulte, Claudia, Berg, D., Claudia Schulte, van Spronsen, F., Gwendolyn Gramer, Maetzler, Walter, Berg, Daniela, Scheffler, K., Francjan J. van Spronsen, Padovani, A., Hoffmann, Georg F., Hoffmann, G., Brockmann, Kathrin, Trefz, Friedrich, Liepelt-Scarfone, I., Brockmann, K., Dorothea Haas, Georg F. Hoffmann, Zipser, E., van Spronsen, Francjan J., Deuschle, Christian, Andrea Pilotto, Zipser, Carl M., Hauser, A., Haas, Dorothea, Ann Kathrin Hauser, Peter Freisinger, Freisinger, P., Maetzler, W., Alessandro Padovani, Trefz, F., Schaeffer, Eva, Freisinger, Peter, Haas, D., Walter Maetzler, Padovani, Alessandro, Daniela Berg, Liepelt-Scarfone, Inga, Pilotto, Andrea, Kathrin Brockmann, Gramer, Gwendolyn, Gramer, G.   +56 more
core   +1 more source

Cardiac Magnetic Resonance Reveals Incipient Cardiomyopathy Traits in Adult Patients With Phenylketonuria

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Phenylketonuria is the most common inborn error of amino acid metabolism, where oxidative stress and collateral metabolic abnormalities are likely to cause cardiac structural and functional modifications.
Radu Tanacli, Jan‐Hendrik Hassel, Rolf Gebker, Alexander Berger, Michael Gräfe, Christopher Schneeweis, Patrick Doeblin, Eckart Fleck, Christian Stehning, Frank Tacke, Burkert Pieske, Joachim Spranger, Ursula Plöckinger, Athanasia Ziagaki, Sebastian Kelle   +14 more
doaj   +1 more source

The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria

Evidence-Based Nursing Research
Context: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU did not diagnose early in life or the affected children with PKU do not be compliant with the ...
Khadiga M. Said, Safaa F. Draz
doaj   +1 more source

Phenylketonuria

, 2017
Phenylketonuria is an autosomal recessive biochemical disorder most often resulting from a deficiency of phenylalanine hydroxylase, the enzyme which catalyzes the conversion of phenylalanine to tyrosine.
Hilary Vernon
core   +1 more source

Executive function in adolescents with PKU and their siblings: Associations with biochemistry

Molecular Genetics and Metabolism Reports, 2015
Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls) found no significant differences in ...
R. Sharman, K. Sullivan, R. Young, J. McGill   +3 more
doaj   +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  

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

The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj   +1 more source