Results 21 to 30 of about 31,184 (250)
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
The complete European guidelines on phenylketonuria: diagnosis and treatment
Orphanet Journal of Rare Diseases, 2017 Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. V. Wegberg +18 more
semanticscholar +1 more source
Orthopaedic Surgery, Volume 14, Issue 12, Page 3367-3377, December 2022., 2022 Using the three‐dimensional finite‐element models (3D‐FEMs) to evaluate the stress distribution intra‐knee after single‐ and double‐bundle (SB and DB) anterior cruciate ligament reconstruction (ACLR). Found the stress of ligament/graft at femoral side of three 3D‐FEMs was significantly higher than at tibial side, while the highest level was observed in
Zi‐mu Mao +10 more
wiley +1 more source
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
Nutritional contents of low phenylalanine diets: A mini review
Пищевые системы, 2023 Increased interest in the utilization of nutrition management of patients with phenylketonuria is clear. Applications include a small measured amount of phenylalanine given in the form of exchange food, phenylalanine-free protein substitute and low ...
A. S. M. Ammar
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
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
Journal of Pediatric and Neonatal Individualized Medicine, 2013 Phenylketonuria is a hereditary metabolic disorder inherited in an autosomal recessive pattern. Elevated phenylalanine levels in a pregnant woman with phenylketonuria result in phenylalanine embryopathy.
Kristina Štuikienė +5 more
doaj +1 more source
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
Short-time anesthesia of a child with phenylketonuria: a case report
Brazilian Journal of Anesthesiology, 2021 Phenylketonuria is a rare disorder that increases the levels of phenylalanine in the blood. As there are scant articles about anesthesia management in phenylketonuria patients, this encouraged us to report a short-time anesthesia management of a child ...
Masoud Tarbiat +3 more
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