Results 41 to 50 of about 1,551 (187)
A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates. [PDF]
JIMD RepABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Jarrah O, Nouri M, Al Shamsi A.
europepmc +2 more sources
Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness
Children, 2021 The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin ...
Huey-Fen Chen +4 more
doaj +1 more source
Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice
Frontiers in Bioengineering and Biotechnology, 2022 Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs.
Maximiliano L. Cacicedo +11 more
doaj +1 more source
Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria [PDF]
Clinical and Experimental Pediatrics, 2023 Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12th chromosome.
Fatma Nur Keskin +3 more
doaj +1 more source
Biomedicines, 2022 Background: The effects of diabetes on the cardiovascular system as well as in the kidney are profound, which include hypertrophy and fibrosis. Diabetes also induces oxidative stress, at least in part due to the uncoupling of nitric oxide synthase (NOS);
Ulises Novoa +5 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2022 In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU patients since the approval of sapropterin dihydrochloride in 2007.
Erika R. Vucko +3 more
doaj +1 more source
Results in Chemistry, 2023 Antimicrobial resistance has rendered the sulfonamide class of antibiotics obsolete. An additional binding site on the dihydropteroate synthase (DHPS) enzyme, i.e., the pterin binding site, has been shown to be a valid alternative to the well-known para ...
Maryké Shaw +3 more
doaj +1 more source
Journal of Applied Sciences and Environmental Management, 2022 This research aims to investigate the antioxidant activity of the crude extract of endophytic fungi (T. harzianum) and to test for the presence of phytochemicals. Fungi isolated from the leaf and stem of endemic medicinal plant were extracted with ethyl
O. M. Ameen +5 more
doaj +1 more source
Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Orphanet Journal of Rare Diseases, 2021 Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine.
Alberto Burlina +9 more
doaj +1 more source
Saudi Pharmaceutical Journal, 2023 Hemorrhoids are a prevalent medical condition that necessitates effective treatment options. The current options for treatment consist of oral medications, topical applications, or surgery, yet a scarcity of highly effective drugs still exists.
Wirawan Adikusuma +7 more
doaj +1 more source