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Developmental Defects of Enamel in Phenylketonuria Patients

Source: Journal of Dentistry for Children - Category: Dentistry Authors: Tags: Clinical Article Source Type: research

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Following publication of the original article [1], the authors reported an error in Table  3 on page 4. Variant No. 18 should be “p.​Ser339Phe c.​1016C>T ” (as g...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Correction Source Type: research
In conclusion, the outlook for flux analysis of metabolic derangement in IEMs looks promising.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
No abstract available
Source: Journal of Neurosurgical Anesthesiology - Category: Anesthesiology Tags: Departments: Correspondence Source Type: research
Publication date: March 2018 Source:Molecular Genetics and Metabolism Reports, Volume 14 Author(s): Bozena Didycz, Miroslaw Bik-Multanowski We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected group of 25 PKU teenagers with treatment adherence problems. We demonstrated significant correlations of anxiety with variability of blood phenylalanine concentrations and with severity of hyperphenylalaninemia. Avoiding blood phenylala...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
k H Abstract Mental retardation, which occurs in phenylketonuric patients, is associated with increased levels of phenylalanine, increased oxidative stress, and an imbalance of amino acids in the brain. Recent studies have shown that oxidative stress plays a role in the pathogenesis of phenylketonuria. In this work, we aimed to compare the influence of blood phenylalanine levels on oxidative stress parameters in phenylketonuric patients who divided patients into groups according to blood Phe levels during follow-up visits and compared these groups with healthy controls. Results showed significant differences in gl...
Source: Cellular and Molecular Neurobiology - Category: Cytology Authors: Tags: Cell Mol Neurobiol Source Type: research
AbstractThe role of oxidative stress in the pathogenesis of phenylketonuria (PKU)-associated disorders has been implicated. Ischemia modified albumin (IMA) is a modified form of serum albumin, which is produced under the conditions of oxidative stress. The aim of this study was to measure the serum level of IMA in the PKU patients and to investigate its ability in predicting the status of oxidative stress in these patients. Fifty treated-PKU patients and fifty age- and sex-matched healthy subjects were included in the study. The blood samples were obtained and the serum level of phenylalanine (Phe) was measured using rever...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
CONCLUSION: PAL treatment reduced maternal PKU syndrome severity in mice and may have potential for human PKU therapy.Pediatric Research accepted article preview online, 21 December 2017. doi:10.1038/pr.2017.323. PMID: 29278642 [PubMed - as supplied by publisher]
Source: Pediatric Research - Category: Pediatrics Authors: Tags: Pediatr Res Source Type: research
Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of ther...
Source: Trials - Category: General Medicine Authors: Tags: Study protocol Source Type: research
Conclusions:Although the consanguineous marriage pattern is a major cause of hyperphenylalaninemia (HPA) particularly in Iranian, there was nosignifcant difference between groups in this study. Now, screening should be executed for all of the family that they have the familial history of PKU in Iran. According to varies actual of prevalence and incidence rate of PKU reported a real patient and taking PKU with mild PKU and HPA, it is recommended, the will provide the PKU reports based on the severity of the disease.Keywords:Chromatography high ‑pressure liquid, Iran, neonatal screening, phenylketonurias
Source: International Journal of Preventive Medicine - Category: International Medicine & Public Health Source Type: research
Abstract Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treate...
Source: Braz J Med Biol Res - Category: Research Authors: Tags: Braz J Med Biol Res Source Type: research
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