Results 11 to 20 of about 31,184 (250)
Nature Reviews Disease Primers, 2021 Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems.
F. Spronsen +5 more
semanticscholar +6 more sources
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023 Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse +8 more
wiley +1 more source
Nature Communications, 2021 In phenylketonuria (PKU) patients, a genetic defect in the enzyme phenylalanine hydroxylase (PAH) leads to elevated systemic phenylalanine (Phe), which can result in severe neurological impairment.
K. Adolfsen +15 more
semanticscholar +1 more source
Autism Research, Volume 15, Issue 12, Page 2265-2295, December 2022., 2022 Abstract Compared to neurotypical peers, autistic adolescents show greater cognitive inflexibility (CI) which manifests at the behavioral and cognitive level and potentially increases vulnerability for the development of internalizing (INT) and externalizing (EXT) symptoms.
Jiedi Lei +5 more
wiley +1 more source
Nature Communications, 2021 Engineered bacteria (synthetic biotics) represent a new class of therapeutics that leverage the tools of synthetic biology. Translational testing strategies are required to predict synthetic biotic function in the human body.
Tyler Nelson +9 more
semanticscholar +1 more source
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria
Journal of Inherited Metabolic Disease, 2021 Previous studies have suggested that cognitive and psychosocial underfunctioning in early‐treated adults with phenylketonuria (PKU) may be explained by suboptimal adherence to dietary treatments, however, these studies often employ small samples, with ...
Lynne Aitkenhead +12 more
semanticscholar +1 more source
Hepatology, EarlyView., 2022 Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan +22 more
wiley +1 more source
The Adult Phenylketonuria (PKU) Gut Microbiome
Microorganisms, 2021 Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain proper nutrition.
Viviana J. Mancilla +3 more
semanticscholar +1 more source
Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022 Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio +8 more
wiley +1 more source
Deep learning serves traffic safety analysis: A forward‐looking review
IET Intelligent Transport Systems, Volume 17, Issue 1, Page 22-71, January 2023., 2023 Abstract This paper explores deep learning (DL) methods that are used or have the potential to be used for traffic video analysis, emphasising driving safety for both autonomous vehicles and human‐operated vehicles. A typical processing pipeline is presented, which can be used to understand and interpret traffic videos by extracting operational safety ...
Abolfazl Razi +6 more
wiley +1 more source