Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00698-4
Abstract: As one of the highest prevalence rates in the world, the prevalence of Phenylketonuria (PKU) in Iran has been estimated at 16.5 per 100,000 neonates. The objective of this study was to evaluate the spectrum… read more here.
Keywords: gene mutations; systematic review; gene; phenylketonuria ... See more keywords
[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco].
Sign Up to like & getrecommendations! Published in 2021 at "Annales de biologie clinique"
DOI: 10.1684/abc.2021.1619
Abstract: Phenylketonuria is an inherited metabolic disease, of autosomal recessive transmission, due to the enzymatic deficit of phenylalanine hydroxylase, which transforms phenylalanine into tyrosine. The deficit leads to an increase in phenylalanine and its metabolite, phenylpyruvic… read more here.
Keywords: phenylketonuric patients; diagnosis monitoring; phenylalanine; morocco ... See more keywords
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples
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DOI: 10.3390/nu12103033
Abstract: We aimed to assess if the same cognitive batteries can be used cross-nationally to monitor the effect of Phenylketonuria (PKU). We assessed whether a battery, previously used with English adults with PKU (AwPKU), was also… read more here.
Keywords: cognitive outcomes; italian awpku; outcomes relationships; metabolic control ... See more keywords
Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey
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DOI: 10.3390/nu16101444
Abstract: Phenylketonuria is an inherited metabolic disorder that leads to neurobehavioral dysfunction. The main treatment is a low-phenylalanine diet and/or the cofactor tetrahydrobiopterin. Regular outpatient follow-up care and measurement of the phenylalanine levels in the blood… read more here.
Keywords: phenylketonuria; economic burden; cost analysis; group ... See more keywords