Results 21 to 30 of about 11,988 (216)

Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007–2015)

International Journal of Preventive Medicine, 2017
Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran.
Ali Abbaskhanian, Daniel Zamanfar, Parvaneh Afshar, Einollah Asadpoor, Hamed Rouhanizadeh, Ali Jafarnia, Mohammad Shokzadeh   +6 more
doaj   +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

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

The influence of parental food preference and neophobia on children with phenylketonuria (PKU)

Molecular Genetics and Metabolism Reports, 2018
Background: In a previous case-control study, we demonstrated that children with PKU and non-PKU controls preferred sweet foods. Additionally, children with PKU exhibited food neophobia, with no preference for bitter tasting foods associated with the ...
Sharon Evans, Anne Daly, Satnam Chahal, Catherine Ashmore, John MacDonald, Anita MacDonald   +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

Genetic Deconvolution of Embryonic and Maternal Cell‐Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning

Advanced Science, EarlyView.
DECENT is a deep learning method that enhances noninvasive preimplantation genetic testing by accurately reconstructing embryonic copy number variations (CNVs) from cell‐free DNA in spent embryo culture media. By mitigating maternal contamination, DECENT improves diagnostic accuracy, even with high contamination levels, offering a reliable, noninvasive
Zhenyi Zhang, Jie Qiao, Yidong Chen, Peijie Zhou   +3 more
wiley   +1 more source

Comprehensive Characterization of Bihormonal Cells and Endocrine Cell Lineages in Mammalian Pancreatic Islets

Advanced Science, EarlyView.
This study integrates dual‐reporter genetics, imaging flow cytometry, and single‐cell sequencing to characterize rare bihormonal cells in mouse and human pancreatic islets. Gcg⁺Ins⁺ cells resemble α‐cells rather than transitional states. Cross‐species gene network analysis refines islet cell taxonomy and reveals human‐specific δ‐cell subtypes ...
Xin‐Xin Yu, Peng Peng, Yi‐Ning Wang, Mao‐Yang He, Shuang He, Chen‐Tao Jin, Liu Yang, Xi Wang, Jia‐Xi Zheng, Jie Gao, Cheng‐Ran Xu   +10 more
wiley   +1 more source

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

Oscillating Magnetic Field Induced Bone Injury Repair by using Drug‐Free Micromotors

Advanced Science, EarlyView.
This work presents a payload‐free, minimally invasive approach for bone repair using magnetic hydrogel micromotors, which enhance bone regeneration via localized micromovement stimulation, achieving a twofold increase in new bone formation in vivo. Abstract Bone injury repair remains a significant clinical challenge due to the tissue's limited self ...
Jie Shen, Rui He, Jiajun He, Lipeng Liao, Yongcan Huang, Shaoxiong Min, Xiaoreng Feng, Bin Chen, Ben Wang   +8 more
wiley   +1 more source