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| Vieira Neto,E.; Maia Filho,H.S.; Monteiro,C.B.; Carvalho,L.M.; Tonon,T.; Vanz,A.P.; Schwartz,I.V.D.; Ribeiro,M.G.. |
| 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-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Phenylketonuria; Quality of life; Questionnaires; Patient compliance; Diet therapy. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000200613 |
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| Zhou,Yong-An; Ma,Yun-Xia; Zhang,Quan-Bin; Gao,Wei-Hua; Liu,Jian-Ping; Yang,Jian-Ping; Zhang,Gai-Xiu; Zhang,Xiao-Gang; Yu,Liang. |
| 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%, respectively, whereas in healthy children the corresponding frequencies were 97.0%, 77.3% and 8.3%. In addition, 81 mutations accounted for 61.0% of the mutant alleles. R111X, H64 > TfsX9 and S70 del accounted for 5.1%, 0.8% and 0.8% mutation of alleles in exon 3, whereas EX6-96A > G accounted for 10.2% mutation of alleles in exon 6. R243Q had the highest incidence in exon 7 (12.7%), followed by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gene mutation; Phenylalanine hydroxylase; Phenylketonuria. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500001 |
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