نتایج جستجو برای: phenylketonurias
تعداد نتایج: 791 فیلتر نتایج به سال:
We describe an electroimmunodiffusion technique for measuring /3-lipoprotein in cord blood spotted on filter paper. A series of cord-blood samples, taken from 916 consecutive live-birth infants, was spotted directly onto filter paper and assayed for /3-lipoprotein. Eleven had abovenormal /3-lipoprotein. Of these 11, seven were tested two to six months later, along with their parents, for total ...
BACKGROUND We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. METHODS A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Sloven...
The biochemical features of phenylketonuria have been reproduced in developing rat pups by administering to them a combination of p-chloro-DL-phenylalanine plus L-phenylalanine for the first 21 days after birth. During the treatment period, the experimental animals show delayed eye opening and decreased brain weight compared with controls given saline. Neuropathological examination of developin...
OBJECTIVES To compare the neurocognitive outcomes of patients with phenylketonuria (PKU) to determine whether decreasing phenylalanine (Phe) levels to <240 is preferable to the use of 360 μmol/L as an upper-target Phe level. An additional aim was to establish the influence of biochemical indices other than Phe on neurocognitive outcomes. STUDY DESIGN Patients with PKU (n = 63; mean age 10.8 ±...
BACKGROUND Parents of children with chronic conditions are known to be at risk of impairment in their quality of life (QoL). Studies considering other chronic conditions proposed diverse factors to have an impact on the parent's QoL. So far, there has been little research on parents who have a child with phenylketonuria (PKU). This study was designed to evaluate the parental quality of life (PQ...
Individuals with early-treated phenylketonuria (ETPKU) most often present with impairment in executive function (EF) and average intelligence compared to the general population. The topic of this review, which is less often discussed, is non-EF impairments that may be associated with ETPKU. Studies that have included assessment of non-EF cognitive functions such as information processing speed,...
Phenylketonuria (PKU) is an inborn error in the metabolism of the amino acid phenylalanine (Phe) due to the deficiency of an enzyme phenylalanine hydroxylase (PAH). Current therapy consists of a Phe – restricted diet for life to ensure the healthiest development. It is particularly important for PKU women in the reproductive age group to comply with the diet, since elevated maternal blood Phe l...
The accumulation of amyloid fibrils is the hallmark of several major human diseases. Although the formation of these supramolecular entities has previously been associated with proteins and peptides, it was later demonstrated that even phenylalanine, a single amino acid, can form fibrils that have amyloid-like biophysical, biochemical, and cytotoxic properties. Moreover, the generation of antib...
Self-assembly of phenylalanine is linked to amyloid formation toxicity in phenylketonuria disease. We are demonstrating that L-phenylalanine self-assembles to amyloid fibrils at varying experimental conditions and transforms to a gel state at saturated concentration. Biophysical methods including nuclear magnetic resonance, resistance by alpha-phenylglycine to fibril formation and preference of...
Using the full length cDNA probe, the RFLP haplotype patterns at the phenylalanine hydroxylase locus have been studied in the extensive and highly consanguineous Welsh Gypsy population. The pattern associated with the mutant PKU allele is identical to haplotype 4 in the northern European population. Two children with classical PKU are homozygous for this haplotype. We have tracked the mutant al...
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