Results 101 to 110 of about 48,194 (317)
Challenges in the management of Phenylketonuria in Malta [PDF]
, 2016 Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Marine Drugs, 2018 Nonribosomal peptides from marine Bacillus strains have received considerable attention for their complex structures and potent bioactivities. In this study, we carried out PCR-based genome mining for potential nonribosomal peptides producers from our ...
Meng Zhou +9 more
semanticscholar +1 more source
New Strategies for the Treatment of Phenylketonuria (PKU) [PDF]
Metabolites, 2014 Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the disease’s clinical features. Treatment of phenylketonuria remains difficult due to progressive decrease in adherence to diet and the presence of neurocognitive defects despite therapy.
Strisciuglio, Pietro, Concolino, Daniela
openaire +4 more sources
Privacy-Preserving Electronic Ticket Scheme with Attribute-based Credentials [PDF]
, 2018 Electronic tickets (e-tickets) are electronic versions of paper tickets, which enable users to access intended services and improve services' efficiency. However, privacy may be a concern of e-ticket users.
Chen, Liqun +4 more
core +2 more sources
Molecular Genetics and Metabolism Reports, 2020 Background: Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine.
Jennifer Beazer +5 more
doaj
Psychological well‐being of early and continuously treated phenylketonuria patients
JIMD Reports, 2021 Background Despite enormous advances in therapy, phenylketonuria (PKU) remains an incurable, inherited metabolic disease requiring life‐long treatment with potential to negatively impact quality of life and psychological well‐being. Therefore, the aim of
Alena Gerlinde Thiele +6 more
doaj +1 more source
Interdisciplinary Medicine, EarlyView.Left: The disruption of the balance between carcinogenic bacteria and probiotics mediated by antibiotics, protein, and glucose intake. Middle: The gut microbiota‐derived amino acids, primarily through tryptophan, tyrosine, arginine, and branched‐chain amino acid pathways, regulate glioma development via mechanisms such as AHR activation, metabolic ...
Qianquan Ma +10 more
wiley +1 more source
Journal of Inherited Metabolic Disease, 2016 ObjectiveEarly treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related problems with
R. Jahja +13 more
semanticscholar +1 more source
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing
Human Genomics, 2022 Background Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite ...
Jinshuang Gao +10 more
doaj +1 more source