Results 81 to 90 of about 48,194 (317)

Can untreated PKU patients escape from intellectual disability? A systematic review

Orphanet Journal of Rare Diseases, 2018
BackgroundPhenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment.
D. van Vliet, A. V. van Wegberg, K. Ahring, M. Bik-Multanowski, N. Blau, F. Bulut, K. Casas, B. Didycz, M. Djordjević, A. Federico, F. Feillet, M. Giżewska, G. Gramer, J. Hertecant, C. Hollak, J. V. Jørgensen, D. Karall, Y. Landau, V. Leuzzi, P. Mathisen, K. Moseley, N. Mungan, Francesca Nardecchia, K. Õunap, Kimberly K. Powell, R. Ramachandran, F. Rutsch, A. Setoodeh, M. Stojiljkovic, F. Trefz, N. Usurelu, Callum Wilson, C. V. van Karnebeek, W. Hanley, F. V. van Spronsen   +34 more
semanticscholar   +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

High‐throughput markerless pose estimation and home‐cage activity analysis of tree shrew using deep learning

Animal Models and Experimental Medicine, EarlyView.
We present a deep learning approach to achieve markerless pose estimation and recognize multiple spontaneous behaviors of tree shrews. This high‐throughput approach can monitor the home‐cage activities of 16 tree shrews simultaneously over an extended period.
Yangzhen Wang, Feng Su, Rixu Cong, Mengna Liu, Kaichen Shan, Xiaying Li, Desheng Zhu, Yusheng Wei, Jiejie Dai, Chen Zhang, Yonglu Tian   +10 more
wiley   +1 more source

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Nutrients, 2019
Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range.
D. van Vliet, A. V. van Wegberg, K. Ahring, M. Bik-Multanowski, K. Casas, B. Didycz, M. Djordjević, J. Hertecant, V. Leuzzi, P. Mathisen, Francesca Nardecchia, Kimberly K. Powell, F. Rutsch, M. Stojiljkovic, F. Trefz, N. Usurelu, Callum Wilson, C. V. van Karnebeek, W. Hanley, F. V. van Spronsen   +19 more
semanticscholar   +1 more source

Moving through adulthood: The lived experience of Irish adults with PKU

Frontiers in Psychology, 2022
BackgroundThis paper represents a portion of the findings from one of the first research studies eliciting the lived experience of adults with an early diagnosis of Phenylketonuria (PKU) living in Ireland.
Mary-Ellen O'Shea, Bernadette Sheehan Gilroy, Anna-Marie Greaney, Anita MacDonald   +3 more
doaj   +1 more source

Optimizing genetics online resources for diverse readers. [PDF]

, 2020
PurposeClear and accurate genetic information should be available to health-care consumers at an individualized level of comprehension. The objective of this study is to evaluate the complexity of common online resources and to simplify text content ...
Chang, Jiyoo, Penon-Portmann, Monica, Shieh, Joseph T   +2 more
core  

Heterogeneous reactions of particulate matter-bound PAHs and NPAHs with NO3/N2O5, OH radicals, and O3 under simulated long-range atmospheric transport conditions: reactivity and mutagenicity. [PDF]

, 2014
The heterogeneous reactions of ambient particulate matter (PM)-bound polycyclic aromatic hydrocarbons (PAHs) and nitro-PAHs (NPAHs) with NO3/N2O5, OH radicals, and O3 were studied in a laboratory photochemical chamber. Ambient PM2.5 and PM10 samples were
Arey, Janet, Atkinson, Roger, Dashwood, Roderick H, Jariyasopit, Narumol, Schrlau, Jill, Simonich, Staci L Massey, Tao, Shu, Yu, Tian-Wei, Zimmermann, Kathryn   +8 more
core   +2 more sources

Escherichia coli in the production of biopharmaceuticals

Biotechnology and Applied Biochemistry, Volume 72, Issue 2, Page 528-541, April 2025.
Abstract Escherichia coli has shouldered a massive workload with the discovery of recombinant DNA technology. A new era began in the biopharmaceutical industry with the production of insulin, the first recombinant protein, in E. coli and its use in treating diabetes. After insulin, many biopharmaceuticals produced from E. coli have been approved by the
İbrahim İncir, Özlem Kaplan
wiley   +1 more source

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Human Genomics, 2023
Background Phenylketonuria (PKU) is a common, congenital, autosomal recessive, metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants.
Chuan Zhang, Pei Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma   +13 more
doaj   +1 more source

Caching in Multidimensional Databases [PDF]

, 2006
One utilisation of multidimensional databases is the field of On-line Analytical Processing (OLAP). The applications in this area are designed to make the analysis of shared multidimensional information fast [9].
Szépkúti, István
core   +4 more sources