Results 31 to 40 of about 42,228 (218)

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Orphanet Journal of Rare Diseases, 2021
Background Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU
Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo   +15 more
doaj   +1 more source

Health-related quality of life in a european sample of adults with early-treated classical PKU

Orphanet Journal of Rare Diseases, 2023
Background Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover,
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts   +12 more
doaj   +1 more source

The pole structure of low energy $\pi N$ scattering amplitudes [PDF]

, 2018
This report presents an investigation of the pion-nucleon elastic scattering in low energy region using a production representation of the partial wave $S$ matrix.
Wang, Yu-Fei
core   +2 more sources

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]

, 2012
Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko, Carmen Rohde, Claudia Matthies, Joachim Thiery, Linda Kortz, Mathias Bruegel, Michael Müller, Skadi Beblo, Ulrike Mütze, Uta Ceglarek, Wieland Kiess   +10 more
core   +3 more sources

Anonymous Single-Sign-On for n designated services with traceability [PDF]

, 2018
Anonymous Single-Sign-On authentication schemes have been proposed to allow users to access a service protected by a verifier without revealing their identity which has become more important due to the introduction of strong privacy regulations.
CI Fan, CP Schnor, D Boneh, D Boneh, D Boneh, D Boneh, D Chaum, DM Gordon, E Ghadafi, F Armknecht, I Teranishi, J Camenisch, J Camenisch, J Camenisch, J Camenisch, J Camenisch, J Camenisch, J Han, K Elmufti, L Nguyen, M Bellare, M Jakobsson, MH Au, SD Galbraith, TF Lee, W Diffie, W Liu   +26 more
core   +2 more sources

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

Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]

, 2018
: Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni, ARTIOLA, CRISTIANA, CARDUCCI, Carla, CARDUCCI, Claudia, D'AMICI, SIRIO, GIOVANNIELLO, TERESA, Manuela Tolve, PASQUALI, Amelia, PIZZUTI, Antonio, Vincenzo Leuzzi   +9 more
core   +1 more source

Living with phenylketonuria in adulthood: the PKU ATTITUDE study [PDF]

, 2018
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence.
Bensi, Giulia, Biasucci, Giacomo, Burlina, Alberto, Cazzorla, Chiara, Leuzzi, Vincenzo, Manti, Filippo, Musumeci, Antonella, Papadia, Francesco, Polo, Giulia, Stoppioni, Vera, Tummolo, Albina, Vendemiale, Marcella   +11 more
core   +2 more sources

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