Results 11 to 20 of about 69,044 (178)
Micronutrient in hyperphenylalaninemia
Data in Brief, 2015 The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein ...
Vanesa Crujeiras +8 more
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Frontiers in Neuroscience, 2021 We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism.
Colm J. McGinnity +12 more
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JIMD Reports, 2021 Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol.
Charles Marques Lourenço +8 more
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JIMD Reports, 2021 Background Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS) Phe results ...
Karlien L. M. Coene +16 more
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Recommendations on phenylketonuria in Turkey
The Turkish Journal of Pediatrics, 2022 Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun +4 more
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Molecular Therapy: Nucleic Acids, 2014 We have previously demonstrated the efficacy of antisense therapy for splicing defects in cellular models of metabolic diseases, suppressing the use of cryptic splice sites or pseudoexon insertions.
Lorena Gallego-Villar +6 more
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THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT
Elektronički Zbornik Radova Veleučilišta u Šibeniku, 2022 Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
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Management of Phenylketonuria and Hyperphenylalaninemia [PDF]
The Journal of Nutrition, 2007 Hyperphenylalaninemia (HPA) is the most frequently inherited disorder of amino acid metabolism (prevalence 1:10,000). In France, a nationwide neonatal screening was organized in 1978 to control its efficacy and patient follow-up. Phenylketonuria (PKU) was diagnosed in 81.6% of screened patients, the remaining affected with either non-PKU HPA (17.2%) or
Hélène Ogier, de Baulny +3 more
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A Report on the Incidence of phenylketonuria [PDF]
Acta Medica Iranica, 1982 To f i nd the. inc idence of Phenylketonuria(PKU) i n Teheran a study was conduc ted i n di ffe rent hospitals of Te heran f or a period of Six Years (1974-1980) by screening 8633 neona t e s wit h Guthrie-test . (4) .
M. Kabiri
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International Journal of Medical Biochemistry, 2022 INTRODUCTION: To evaluate the 2-year follow-up of hyperphenylalaninemia (HPA) patients born in 2019. METHODS: Growth, neuromotor development, and vitamin levels of 61 two-year-old babies followed up with the diagnosis of HPA in 2019 were evaluated ...
Pelin Savli +3 more
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