Results 41 to 50 of about 538,734 (195)
Effect of experimental phenylketonuria on the development of skin of prenatel and newborn fetuses. [PDF]
Journal of Bioscience and Applied Research, 2016 Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Hassan.I. Elsayyad +3 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. M. J. van Wegberg +18 more
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Advanced Science, EarlyView.Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu +7 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Frontiers in Genetics, 2023 The estimated prevalence of tetrahydrobiopterin deficiency (BH4D) and the mutational spectrum of the causal 6-pyruvoyl-tetrahydropterin synthase (PTS) gene vary widely according to race and region.
Xiaolong Qiu +7 more
doaj +1 more source
Future Postharvest and Food, EarlyView.Processing quality in fruit crops is governed by complex genetic networks controlling texture, sweetness, color, browning, aroma, and nutritional quality. Advances in genomics, genomic selection, and genome editing enable the development of processing‐oriented cultivars with improved industrial performance, reduced postharvest losses, and enhanced ...
M. Ranjani +2 more
wiley +1 more source
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency [PDF]
Human Mutation, 2008 Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH4)-responsive hyperphenylalaninemia has been recently described as a variant of PAH deficiency caused by specific mutations in the PAH gene. It has been suggested that BH4-responsiveness may be predicted from the corresponding genotypes.
Zurflüh, M R +8 more
openaire +6 more sources
Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3)
, 2001 Click on the DOI link below to access the article (may not be free).Phenylketonuria (PKU) is an inborn error of metabolism that is inherited in an autosomal recessive manner.
White, Gabriele +2 more
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, 2023 Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbance of
Xiaolan Xu (166867) +9 more
core +1 more source
Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU) [PDF]
Molecular Frontiers Journal, 2019 Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but shortcomings ...
Cary O. Harding
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