Results 51 to 60 of about 7,599 (237)

Living with phenylketonuria in adulthood: the PKU ATTITUDE study [PDF]

open access: yes, 2018
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence.
Bensi, Giulia   +11 more
core   +2 more sources

Effect of Experimental Phenylketonuria on the Bone of Pregnant Mothers and Their Young During Perinatal Life and After Delivered Newborn of Albino Rats [PDF]

open access: yes, 2015
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 ...
Ebied, H. M. (Hala)   +3 more
core  

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin-responsive hyperphenylalaninemia [PDF]

open access: yes, 2004
The natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis. BH4-responsive PAH deficiency is a variant of hyperphenylalaninemia or phenylketonuria (PKU) caused
Bjorgo   +31 more
core   +1 more source

Synthesis of 6β-N(5)-Methyl-5,6,7,8-tetrahydro-L-biopterin

open access: yesPteridines, 1993
Summary 6β-N(5)-methyl-5.6J,8-tetrahydro-L-biopterin·2 HC1. a new derivate of biological interest, was synthesized from 6β-5,6,7,8-tetrahydro-L-biopteril·2 HC1 and characterized.
Bosshard Rene   +2 more
doaj   +1 more source

Molecular basis for nonphenylketonuria hyperphenylalaninemia

open access: yesGenomics, 1992
Nonphenylketonuria hyperphenylalaninemia (non-PKU HPA) is defined as phenylalanine hydroxylase (PAH) deficiency with blood phenylalanine levels below 600 mumol/liter (i.e., within the therapeutic range) on a normal dietary intake. Haplotype analysis at the PAH locus was performed in 17 Danish families with non-PKU HPA, revealing compound heterozygosity
Effrosini Economou-Petersen   +3 more
openaire   +3 more sources

New Developments in Screening for Inborn Errors of Metabolism [PDF]

open access: yes, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Use of sapropterin in Mexican patients with yperphenylalaninemia

open access: yesActa Pediátrica de México, 2014
Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo   +2 more
doaj   +1 more source

Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction

open access: yesJIMD Reports, 2022
Osteopenia is an under‐investigated clinical presentation of phenylalanine hydroxylase (PAH)‐deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pahenu2 mouse is universally osteopenic and ideal to study the ...
Steven F. Dobrowolski   +6 more
doaj   +1 more source

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia

open access: yesChildren, 2022
Background: Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders.
Maria Cristina Risoleo   +8 more
doaj   +1 more source

7-Tetrahydrobiopterin is an uncoupled cofactor for rat hepatic phenylalanine hydroxylase [PDF]

open access: yes, 1991
Rat hepatic phenylalanine hydroxylase requires both a tetrahydropterin cofactor and molecular oxygen to convert phenylalanine to tyrosine. During the physiological hydroxylation, a single mol of the natural cofactor, tetrahydrobiopterin, is oxidized for ...
Armarego   +30 more
core   +1 more source

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