Results 61 to 70 of about 48,194 (317)

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

Orphanet Journal of Rare Diseases, 2019
BackgroundPhenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment ...
K. F. Trefz, A. Muntau, Km Kohlscheen, J. Altevers, Christian Jacob, Sebastian Braun, Wolfgang Greiner, Ashok Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder, F. Rutsch   +12 more
semanticscholar   +1 more source

Color-charged Quark Matter in Astrophysics? [PDF]

Chin.Phys.Lett. 23 (2006) 3205-3207, 2006
Color confinement is only a supposition, which has not been proved in QCD yet. It is proposed here that macroscopic quark gluon plasma in astrophysics could hardly maintain colorless because of causality. The authors expected that the existence of chromatic strange quark stars as well as chromatic strangelets preserved from the QCD phase transition in ...
arxiv   +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

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

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

Oxygen abundance of open cluster dwarfs [PDF]

Astrophys.J.660:712-722,2007, 2007
We present oxygen abundances of dwarfs in the young open cluster IC 4665 deduced from the OI $\lambda$7774 triplet lines and of dwarfs in the open cluster Pleiades derived from the [OI] $\lambda$6300 forbidden line. Stellar parameters and oxygen abundances were derived using the spectroscopic synthesis tool SME (Spectroscopy Made Easy).
arxiv   +1 more source

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

Supersymmetric Electroweak Corrections to $W^{\pm}H^{\mp}$ Associated Production at the CERN Large Hadron Collider [PDF]

Phys.Rev. D62 (2000) 095012, 2000
The $O(\alpha_{ew}m_{t(b)}^{2}/m_{W}^{2})$ and $O(\alpha_{ew} m_{t(b)}^4/m_W^4)$ supersymmetric electroweak corrections to the cross section for $W^{\pm}H^{\mp}$ associated production at the LHC are calculated in the minimal supersymmetric standard model.
arxiv   +1 more source

3-D feature of self-correlation level contours at $10^{10}\ \mathrm{cm}$ scale in solar wind turbulence [PDF]

The Astrophysical Journal, 882:21 (5pp), 2019 September 1, 2019
The self-correlation level contours at $10^{10}\ \mathrm{cm}$ scale reveal a 2-D isotropic feature in both the slow solar wind fluctuations and the fast solar wind fluctuations. However, this 2-D isotropic feature is obtained based on the assumption of axisymmetry with respect to the mean magnetic field.
arxiv   +1 more source

Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]

, 2018
We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe, Colamartino, Marco, Di Menna, Luisa, Fiori, Elena, Iacovelli, Luisa, Leuzzi, Vincenzo, Nardecchia, Francesca, Nicoletti, Ferdinando, Nistico, Robert, Orlando, Rosamaria, Pascucci, Tiziana, Piccinin, Sonia, Puglisi-Allegra, Stefano   +12 more
core   +2 more sources