Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese
Author:
Affiliation:
1. BioMarin Brasil Farmacêutica Ltda., Brasil
2. BioMarin Pharmaceutical Inc., USA
3. APAE São Paulo, Brasil
4. APAE Salvador, Brasil
5. Hospital de Clínicas de Porto Alegre, Brasil
6. Mapi, an ICON plc Company, France
Publisher
FapUNIFESP (SciELO)
Subject
Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://www.scielo.br/pdf/jiems/v7/2326-4594-jiems-7-e20180001.pdf
Reference31 articles.
1. Phenylketonuria;Blau N;Lancet,2010
2. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis;Waisbren SE;Mol Genet Metab,2007
3. American College of Medical Genetics and Genomics Therapeutics Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline;Vockley J;Genet Med,2014
4. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example;Camp KM;Mol Genet Metab,2012
5. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency;Singh RH;Genet Med,2014
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil;Arquivos de Neuro-Psiquiatria;2023-06-19
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