White matter disturbances in phenylketonuria: Possible underlying mechanisms
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuroscience Research"
DOI: 10.1002/jnr.24598
Abstract: White matter pathologies, as well as intellectual disability, microcephaly, and other central nervous system injuries, are clinical traits commonly ascribed to classic phenylketonuria (PKU). PKU is an inherited metabolic disease elicited by the deficiency of… read more here.
Keywords: matter; phenylketonuria possible; disturbances phenylketonuria; pku ... See more keywords
Octahedral-based redox molecular sieve M-PKU-1: Isomorphous metal-substitution, catalytic oxidation of sec-alcohol and related catalytic mechanism
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Catalysis"
DOI: 10.1016/j.jcat.2017.05.007
Abstract: Abstract Octahedral-based redox molecular sieves M-PKU-1 (M Cr, Fe) were synthesized by isomorphous metal-substitution and used as catalysts for catalytic dehydrogenation of sec-alcohols using H2O2 as oxidant. Various characterizations, such as X-ray diffraction Rietveld refinement… read more here.
Keywords: based redox; octahedral based; isomorphous metal; metal substitution ... See more keywords
Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.04.002
Abstract: Classical phenylketonuria (PKU, OMIM 261600) owes to hepatic deficiency of phenylalanine hydroxylase (PAH) that enzymatically converts phenylalanine (Phe) to tyrosine (Tyr). PKU neurologic phenotypes include impaired brain development, decreased myelination, early onset mental retardation, seizures,… read more here.
Keywords: pig; tissue; brain; pku ... See more keywords
Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100649
Abstract: Purpose Retinal changes are poorly described in early treated phenylketonuria (ETPKU). We aimed to investigate possible visual functional and ocular microstructural changes in adult patients with ETPKU. Optical coherence tomography (OCT) and its angiography (OCTA)… read more here.
Keywords: early treated; fiber layer; layer; nerve fiber ... See more keywords
Bone Status in Patients with Phenylketonuria: A Systematic Review
Sign Up to like & getrecommendations! Published in 2020 at "Nutrients"
DOI: 10.3390/nu12072154
Abstract: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal… read more here.
Keywords: systematic review; pku patients; bone status; bone ... See more keywords
Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document
Sign Up to like & getrecommendations! Published in 2022 at "Nutrients"
DOI: 10.3390/nu14030576
Abstract: There is an increasing number of adults and elderly patients with phenylketonuria (PKU) who are either early, late treated, or untreated. The principal treatment is a phenylalanine-restricted diet. There is no established UK training for… read more here.
Keywords: pku; care; dietetic management; management adults ... See more keywords
Glycomacropeptide in PKU—Does It Live Up to Its Potential?
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DOI: 10.3390/nu14040807
Abstract: The use of casein glycomacropeptide (CGMP) as a protein substitute in phenylketonuria (PKU) has grown in popularity. CGMP is derived from κ casein and is a sialic-rich glycophosphopeptide, formed by the action of chymosin during… read more here.
Keywords: pku; cgmp; live potential; glycomacropeptide pku ... See more keywords
Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia
Sign Up to like & getrecommendations! Published in 2022 at "Nutrients"
DOI: 10.3390/nu14061311
Abstract: The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients… read more here.
Keywords: morbidities large; cardiometabolic nutritional; adult; pku ... See more keywords
Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective
Sign Up to like & getrecommendations! Published in 2022 at "Nutrients"
DOI: 10.3390/nu14193961
Abstract: In the Netherlands, abnormal New-Born Screening (NBS) results are communicated to parents by the general practitioner (GP). Good communication and consequential trust in professionals is of the utmost importance in the treatment of phenylketonuria (PKU).… read more here.
Keywords: new born; communication; pku; communication abnormal ... See more keywords