Results 1 to 10 of about 1,229 (164)
Molecular Genetics & Genomic Medicine, 2022 Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism.
Tayebeh Hamzehloei +2 more
exaly +2 more sources
The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis [PDF]
Orphanet Journal of Rare DiseasesBackground Phenylketonuria (PKU) is one of the common Inborn Errors of Metabolism diseases, that is caused by a phenylalanine hydroxylase (PAH) deficiency or cofactor tetrahydrobiopterin.
Samira Faraji +14 more
doaj +2 more sources
Microfluorometric Screening Technic for Phenylketonurias using Filter Paper Sample Collection
American Journal of Clinical Pathology, 1967 Emilio Unanue, S. Notrica, H.R. Irwin
exaly +2 more sources
Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2022 The mainstay of management of phenylketonuria (PKU) is restriction of dietary phenylalanine (Phe) intake. The present study sought to assess the perception and understanding of health care providers and lay users (patients/family members/caregivers ...
Bruna Bento dos Santos +5 more
doaj +1 more source
METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA
Revista Paulista de Pediatria, 2021 Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period.
Zeni Drubi Nogueira +4 more
doaj +2 more sources
Revista Paulista de Pediatria, 2020 Objective: To verify the occurrence of overweight in children and adolescents with phenylketonuria and to identify possible causal factors. Data sources: A systematic review was performed in the SciELO, PubMed and VHL databases using the descriptors ...
Berilany dos Santos Sena +4 more
doaj +2 more sources
Arquivos de Neuro-Psiquiatria, 2023 Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them ...
Ida Vanessa Doederlein Schwartz +5 more
doaj +1 more source
International Journal of Preventive Medicine, 2017 Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran.
Ali Abbaskhanian +6 more
doaj +1 more source
Journal of Applied Oral Science, 2009 The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998.
Mariana Germano Gejão +4 more
doaj +1 more source
¿Qué debe saber el pediatra de las hiperfenilalaninemias? [PDF]
, 2015 ResumenLas hiperfenilalaninemias se definen por un nivel sanguíneo de fenilalanina sobre 2mg/dl. La principal causa es una mutación en el gen que codifica la fenilalanina hidroxilasa que cataliza la reacción que transforma la fenilalanina en tirosina ...
Peredo, Pilar +10 more
core +1 more source