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phenylketonurias/phosphatase
Врската е зачувана во таблата со исечоци
Страница 1 од 25 резултати
ROENTGENOLOGIC BONE CHANGES IN PHENYLKETONURIA. RELATION TO DIETARY PHENYLALANINE AND SERUM ALKALINE PHOSPHATASE.
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The effects of hyperphenylalaninemia on fetal development: a new animal model of maternal phenylketonuria.
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A new model has been developed for the study of maternal phenylketonuria. Beginning on the 12th day of gestation the diet of pregnant rats was supplemented with 0.5% alpha-methylphenylalanine and 3% phenylalanine. This resulted in an 83% reduction of hepatic phenylalanine hydroxylase activity. The
The effect of hyperphenylalaninaemia on glycine metabolism in developing rat brain.
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The brains of 3--16-day-old rats that were rendered hyperphenylalaninaemic by daily injections of alpha-methylphenylalanine plus phenylalanine were subjected to biochemical analysis. Fluctuations throughout the treatment period in the concentrations of branched-chain amino acids, methionine and
[Screening mutations in phenylketonuria by means of nonradioactive reverse dot blot hybridization].
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OBJECTIVE
To establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria (PKU).
METHODS
Four exons harboring the mutations, Y204C (exon6, E6), R243Q(E7), Y356X(E11) and R413P(E12), were amplified by polymerase chain reaction (PCR) with incorporation of
Relationship between Biochemical Bone Markers and Bone Mineral Density in Patients with Phenylketonuria under Restricted Diet.
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OBJECTIVE
Most of phenylketonuria (PKU) develops bone turnover impairment and low bone mineral density (BMD). Measurements of BMD reflect only bone mineral status but not the dynamics of bone turnover. Bone markers are a noninvasive tool useful for the assessment of bone formation and bone resorption
Imbalance in the activities of alkaline phosphatase and Na+-K+-ATPase in the brain of experimentally induced phenylketonuric squirrels (Funambulus palmarum).
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Phenylketonuric squirrels have shown marked inhibition of alkaline phosphatase in the olfactory lobes and cerebral hemispheres, whereas the Na+-K+-ATPase remained less altered. In the pathogenesis of phenylketonuria inhibition of alkaline phosphatase at the level of "Blood-Brain Barrier" (BBB),
Reduced bone mineral density in Chinese children with phenylketonuria.
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BACKGROUND
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder. Dietary control of classic PKU needs restriction of natural proteins. The diet results in unbalanced nutrition, which might affect the physical development of the patients. Our aim was to evaluate bone mineral density
Vitamin B-6 status of school-aged patients with phenylketonuria.
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A triad of measures of vitamin B-6 (B6) status (diet, plasma, and urine) was evaluated in 15 patients with phenylketonuria (PKU) and six control subjects (6-17 y): 1) 4-d reported dietary intakes of protein and B6; 2) fasting plasma concentrations of pyridoxal 5'-phosphate (PLP), total B6 (TB6), and
Peak bone mass in patients with phenylketonuria.
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OBJECTIVE
Several studies have suggested a compromised bone mass in phenylketonuria patients but most reported on heterogeneous or small patient groups. Our aim was to evaluate peak bone mass in adult PKU patients and to relate BMD to nutritional parameters.
METHODS
BMD was measured by dual-energy
[Markers of bone formation and resorption in prepubertal children with phenylketonuria].
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Biochemical bone markers are a valuable noninvasive tool useful in the management of metabolic bone diseases. Phenylketonuria (PKU) is a disorder in which dietary phenylalanine restriction is the only known therapy for the prevention of mental impairment in patients. This kind of diet may influence
Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients.
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BACKGROUND
The etiology of reduced bone mineral density (BMD) in phenylketonuria (PKU) is unknown. Reduced BMD may be inherent to PKU and/or secondary to its dietary treatment.
METHODS
Lumbar BMD was measured by dual-energy X-ray absorptiometry in 53 early and continuously treated PKU patients
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.
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Phenylalanine hydroxylase (PAH) deficiency is an inherited metabolic disorder requiring life-long restriction of dietary protein and phenylalanine-free medical food. Low bone mineral density (BMD) is reported, but factors associated with BMD Z-score (standard deviations from normal) are unknown. We
Construction of a Liquid Crystal-Based Sensing Platform for Sensitive and Selective Detection of l-Phenylalanine Based on Alkaline Phosphatase.
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The detection of l-phenylalanine (l-Phe) has become one of the most pressing issues concerning diagnosis and treatment of phenylketonuria in neonates; however, a simple and robust methodology is yet to be developed. Here, the application of novel liquid crystals (LCs)-sensing platform for sensitive,
Generation of urine-derived induced pluripotent stem cells from a patient with phenylketonuria.
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The aim of the study was to establish an induced pluripotent stem cell line from urine-derived cells (UiPSCs) from a patient with phenylketonuria (PKU) in order to provide a useful research tool with which to examine the pathology of this rare genetic metabolic disease. Urine-derived epithelial
Comparison of alpha-methylphenylalanine and p-chlorophenylalanine as inducers of chronic hyperphenylalaninaemia in developing rats.
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alpha-Methylphenylalanine is a very weak competitive inhibitor of rat liver phenylalanine hydroxylase in vitro but a potent suppressor in vivo. The loss of the hepatic activity (the renal one is unaffected) becomes maximal (70-75% decrease; cf. control) 18h after the administration (per 10g body
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