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
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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
Archives of Disease in Childhood, 2006 My name is Elizabeth Hooley and I am 13 years old. I have phenylketonuria (PKU) so cannot eat meat, fish, cheese, eggs, poultry, most dairy products, or anything else high in protein. Also, I cannot have any light, diet, or sugar-free drinks or food. I am allowed all fruits—but only one small banana a day.
openaire +3 more sources
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires [PDF]
Orphanet Journal of Rare Diseases, 2015 BackgroundThe aim of our study was to develop and validate the first set of PKU-specific Health-related Quality of Life (HRQoL) questionnaires that: 1) were developed for patients with PKU and their parents, 2) cover the physical, emotional, and social ...
Antoine Regnault +6 more
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Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]
, 2012 Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko +10 more
core +2 more sources
Fenilcetonuria and hyperactivity: results in extremeños children
INFAD, 2015 Phenylketonuria (PKU) is a type of hyperphenylalaninemias, which are an inborn group of errors of the amino acid phenylalanine metabolism that are usually characterized by producing a severe mental retardation and even death if it is not treated properly.
Virgilio García Aparicio +1 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
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
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
“I Feel Lucky” – Gratitude Among Young Adults with Phenylketonuria (PKU) [PDF]
Journal of Genetic Counseling, 2016 Plata Sofie Diesen
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