Results 21 to 30 of about 23,946 (202)
Use of sapropterin in Mexican patients with yperphenylalaninemia
Acta Pediátrica de México, 2014 Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo +2 more
doaj +1 more source
Frontiers in Genetics, 2021 Melatonin acts both as an antioxidant and as a growth regulatory substance in plants. Pseudomonas fluorescens endophytic bacterium has been shown to produce melatonin and increase plant resistance to abiotic stressors through increasing endogenous ...
Jian Jiao +12 more
doaj +1 more source
In Vivo Studies of Phenylalanine Hydroxylase by Phenylalanine Breath Test: Diagnosis of Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency [PDF]
Pediatric Research, 2004 Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test. Most cases of BH4-responsive PAH deficiency include mild phenylketonuria (PKU) or mild hyperphenylalaninemia (HPA), but not all patients with mild PKU respond to BH4.
Yoshiyuki, Okano +9 more
openaire +2 more sources
International Journal of Preventive Medicine, 2017 Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation
Daniel Zamanfar +5 more
doaj +1 more source
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Journal of Inborn Errors of Metabolism and Screening, 2019 Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes).
Rosa E. Enacán +10 more
doaj +1 more source
Disturbed amino acid metabolism in HIV: association with neuropsychiatric symptoms
Frontiers in Psychiatry, 2015 Blood levels of the amino acid phenylalanine, as well as of the tryptophan breakdown product kynurenine, are found to be elevated in human immunodeficiency virus type 1 (HIV-1)-infected patients.
Johanna M Gostner +3 more
doaj +1 more source
Biotechnology for Biofuels and Bioproducts, 2023 Background Aromatic compounds derived from tyrosine are important and diverse chemicals that have industrial and commercial applications. Although these aromatic compounds can be obtained by extraction from natural producers, their growth is slow, and ...
Yasuharu Satoh +4 more
doaj +1 more source
Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]
Journal of Medical Biochemistry, 2009 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj
Multimodal Imaging Reveals Rapid Catecholamine Uptake and Release by Neutrophils
Advanced Science, EarlyView.We show that immune cells (neutrophils) synthesize, uptake, and store catecholamine neurotransmitters such as dopamine or adrenaline. They also release them in response to specific stimuli (serotonin), which we directly visualize using fluorescent nanosensors. We further demonstrate that catecholamines affect neutrophil functions (NETosis) and platelet
Jennifer Mohr +19 more
wiley +1 more source
Pediatria i Medycyna Rodzinna, 2018 Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska +2 more
doaj +1 more source