Phenylketonuria
Mostrando 13-24 de 126 artigos, teses e dissertações.
-
13. Editorial Letter to Special Issue on Phenylketonuria
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
14. Chilean Nutrition Management Protocol for Patients With Phenylketonuria
Abstract Since neonatal screening and early nutritional treatment began, it has been possible to reverse the neurological damage that phenylketonuria (PKU) causes. Scientific evidence gathered over more than 50 years on the monitoring of individuals with PKU indicates that a phenylalanine level of about 6 mg/dL (360 µmol/L) is ideal and points to the necess
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
15. Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic
Abstract Nearly half of all patients diagnosed with phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, are lost to follow-up (LTFU); most are adults who stopped attending clinic after the age of 18 years. To understand why adult patients with PAH deficiency disengage from their clinic, a focus group of 8 adults with PAH deficiency who
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
16. Alternative Therapies for PKU
Abstract The phenylalanine (PHE)-restricted diet has improved in quality and diversity over time and has proven to be effective in all patients. Nevertheless, this treatment imposes a heavy social and economic burden to patient and family and impacts quality of life. Sustained adherence to PHE restriction is difficult to maintain. Moreover, even patients wit
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
17. Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese
Abstract The phenylketonuria - quality of life (PKU-QOL) questionnaire was developed to assess the impact of phenylketonuria (PKU) and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), it was developed and validated in eight countries. The objective o
J. inborn errors metab. screen.. Publicado em: 07/03/2019
-
18. Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test
Abstract In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU durin
J. inborn errors metab. screen.. Publicado em: 28/02/2019
-
19. A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria
Abstract An innovative technology (Physiomimic Technology) has been applied to amino acids (AAs) formulated for patients with phenylketonuria, with the objective of masking AA taste and odor and prolonging AA release in the gut, allowing a physiological absorption. This technology entails that the AAs are processed with functional additives that are able to
J. inborn errors metab. screen.. Publicado em: 28/02/2019
-
20. Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients
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 adolescent
Braz J Med Biol Res. Publicado em: 11/12/2017
-
21. Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%,
Genet. Mol. Biol.. Publicado em: 16/10/2012
-
22. AVALIAÇÃO DO PROGRAMA DE TRIAGEM NEONATAL PARA A FENILCETONÚRIA NO ESTADO DE SERGIPE. / EVALUATION OF NEWBORN SCREENING PROGRAM FOR PKU IN SERGIPE.
O objetivo deste trabalho foi avaliar o Programa Nacional de Triagem Neonatal no Estado de Sergipe no Nordeste do Brasil (PNTN/SE) para a fenilcetonúria (PKU). Foi realizado um estudo transversal. As variáveis estudadas foram: concentrações de fenilalanina no sangue coletado em papel-filtro do calcanhar de 43.449 crianças (PKUneo); concentrações de fe
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 25/03/2011
-
23. Exercício aeróbico regular restaura os níveis de catecolaminas em glândulas supra-renais de ratos com hiperfenilalaninemia
Fenilcetonúria é caracterizada pela deficiência da enzima fenilalanina hidroxilase, causando acúmulo de fenilalanina, o que acaba por provocar distúrbios no sistema nervoso central. Diagnóstico precoce e subordinação à dieta hipoprotéica evita as alterações decorrentes. Porém, não aderir estritamente a essa dieta leva à diminuição da concent
Publicado em: 2011
-
24. Efeito da creatina e do piruvato sobre alguns parâmetros comportamentais e bioquímicos em ratos submetidos à administração intra-hipocampal de fenilalanina
The objective of this work was to investigate the possible preventive effect of pyruvate and creatine (substances with energetic and antioxidant properties) on the behavioral and biochemical alterations caused by intrahippocampal administration of phenylalanine (Phe) in Wistar rats. It was developed a experimental chemical model of phenylketonuria(PKU) by in
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2011