نتایج جستجو برای: phenylketonurias
تعداد نتایج: 791 فیلتر نتایج به سال:
We report prenatal diagnosis of phenylketonuria by linkage analysis of the markers linked to the phenylalanine hydroxylase (PAH) gene. Three markers comprising STR (TCTAT)n in intron 3, VNTR (30bp long cassette) in the 3' UTR and Xmn1 RFLP were ascertained in the affected child, the parents and the chorionic villi sample. The foetus was confirmed to be heterozygous for the mutant allele. The di...
The primary treatment for phenylketonuria (PKU) is a low phenylalanine diet together with an amino acid-based, phenylalanine-free formula. Thus, PKU patients tend to consume a diet enriched in carbohydrates which could predispose to obesity. Studies in the 1980s and 1990s demonstrated that school-age phenylketonuria (PKU) patients have a higher mean body weight compared to a control population....
A 25-year-old woman with mild hyperphenylalaninemia developed disabling depression and panic attacks. The mutations on the phenylalanine hydroxylase gene indicated that she might be responsive to tetrahydrobiopterin therapy. Mutation analyses were performed by the John F. Kennedy Institute in Glostrup, Denmark. The response to tetrahydrobiopterin therapy was impressive at an oral dose of 50 mg ...
An assessment of the automated fluorimetric technique for the estimation of phenylalanine, using blood collected and stored on filter paper, indicated that its accuracy and precision compared favourably with those of other methods, including the bacteriological inhibition assay. The method appeared to offer advantages, both in the detection of phenylketonuria and for the more accurate determina...
Farquhar, J. W. (1974). Archives of Disease in Childhood, 49, 205. Baby of a phenylketonuric mother: inferences drawn from a single case. Reports on pregnancy in phenylketonuric women are rare, but fetal brain damage has been well documented and attributed to the mother's biochemical disturbance. Reports on fetal health after the treatment of phenylketonuria (PKU) in pregnancy are even rarer. S...
Two tests have been compared for detection of heterozygotes for phenylketonuria, one based on determination of plasma phenylalanine and tyrosine concentrations in fasting individuals and the other on kinetic evaluation of the plasma elimination curve after intravenous loading with L-phenylalanine. The plasma elimination curve was biexponential and the kinetics were evaluated according to the tw...
BACKGROUND Sapropterin dihydrochloride effectively lowers plasma phenylalanine (Phe) for at least a third of phenylketonuria (PKU) patients, with potential for increased dietary Phe tolerance and decreased medical food requirement. OBJECTIVE To investigate long-term quality of life (QOL) in patients with phenylketonuria (PKU) who took sapropterin (BH4, Kuvan®) for up to one year. METHODS 37...
A fluorometric method for the determination of phenylpyruvic acid (PPA) has been established. Benzaldehyde formed from PPA by alkaline decomposition is quantified by means of its fluorogenic reaction with 1,4-dimethyl-3-carbamoylpyridinium chloride. PPA can be determined in the range of 0.1-3 nmol/50 ƒÊl with the relative standard deviation of 4.0-4.1%. About 70% recovery was obtained when a ur...
‘IT0STUDY PROTEIN METABOLISM with special reference to tyrosine as well as to study the deranged metabolism of aromatic compounds in phenylketonuria and similar disorders, quantitative determination of urinary phenols is desirable. Volterra (1) measured three phenolic fractions in the urine by distillation. Phenols have been measured quantitatively after ethyl acetate extraction by Bray and Tho...
We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and evidence grading according to the Scottish Intercollegiate Guidelines Network method. We used the Delphi method when little or no evidence was available. From the 70 recommendations formulated, in this Review we describe ten that we deem as havi...
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