Results 11 to 20 of about 42,228 (218)
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
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice. [PDF]
JIMD RepABSTRACT Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders. Treatment involves a Phe‐restricted diet, amino acid supplements, and for a subset of patients, a tetrahydrobiopterin (BH4 ...
Lundkvist P +3 more
europepmc +2 more sources
Impact of phenylketonuria type meal on appetite, thermic effect of feeding and postprandial fat oxidation [PDF]
, 2018 Background: Dietary management of phenylketonuria (PKU) requires the replacement of natural protein-containing foods with special low protein foods.
Alfheeaid, Hani +5 more
core +1 more source
Comparison of IQ scores between children with phenylketonuria and healthy children referring to Besat Hospital in Sanandaj between 2017 and 2018 [PDF]
مجله علمی دانشگاه علوم پزشکی کردستان, 2019 Background and Aim: Phenylketonuria is a genetic and congenital metabolic disorder with autosomal recessive transmission. In this disease phenylalanine is not converted to tyrosine due to lack of phenylalanine hydroxylase enzyme which results in ...
Asadollah Fatholahpuor +3 more
doaj +1 more source
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2020 Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients.
András Gellért Barta +6 more
doaj +1 more source
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? [PDF]
, 2014 Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.
Donaldson, Malcolm +3 more
core +3 more sources
Journal of Orthopaedic Surgery and Research, 2020 Background Inflammation and apoptosis of chondrocytes are the pathological bases of osteoarthritis. Autophagy could alleviate the symptoms of inflammation and apoptosis. Previous study has shown that BCL2/adenovirus E1B 19 kDa protein-interacting protein
Zetao Ma +4 more
doaj +1 more source
Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria [PDF]
, 2017 Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Christ, Shawn E +5 more
core +4 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 +1 more source