Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes
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DOI: 10.1002/advs.202305701
Abstract: Phenylketonuria (PKU) is the most common inherited metabolic disease in humans. Clinical screening of newborn heel blood samples for PKU is costly and time‐consuming because it requires multiple procedures, like isotope labeling and derivatization, and… read more here.
Keywords: metabolic profile; label free; subtype identification; pku ... See more keywords
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12724
Abstract: Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth… read more here.
Keywords: pku; pregnancy; blood phe; safety ... See more keywords
Therapeutic liver cell transplantation to treat murine PKU
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12802
Abstract: For gene therapy of the liver, in vivo applications based on adeno‐associated virus are the most advanced vectors despite limitations, including low efficacy and episomal loss, potential integration and safety issues, and high production costs.… read more here.
Keywords: cell transplantation; pku; liver cell; cell ... See more keywords
White matter disturbances in phenylketonuria: Possible underlying mechanisms
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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
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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
Emphasis on the importance of comprehensive clinical and genetic analysis – spinal muscular atrophy combined with phenylketonuria: A case report
Sign Up to like & getrecommendations! Published in 2024 at "Medicine"
DOI: 10.1097/md.0000000000039076
Abstract: Rationale: Both spinal muscular atrophy (SMA) and Phenylketonuria (PKU) are caused by biallelic pathogenic mutations. However, there has been no report on case who suffering from both diseases simultaneously. SMA mainly affects the motor function… read more here.
Keywords: spinal muscular; pku; importance comprehensive; muscular atrophy ... See more keywords
Bone Status in Patients with Phenylketonuria: A Systematic Review
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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?
Sign Up to like & getrecommendations! Published in 2022 at "Nutrients"
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