Treatment of child with phenylketonuria: a literature review
Abstract: Objective: To analyze the importance of Neonatal Screening for the treatment of children with phenylketonuria. Method: This is an integrative review. To select the studies we looked at the electronic databases Scientific Electronic Library Online - SciELO journal portal and CAPES in September 2013, using the keywords: Phenylketonuria, Triage, Child health. Results: The analysis of the articles indicated that in the period 2008-2013, the year 2010 had the highest number of publications. Most studies paused to examine the importance of neonatal screening program to evaluate the tracking phenylketonuria, as well as to characterize the performance of children diagnosed and treated early with phenylketonuria. Conclusion: Studies have shown that treatment is significantly more effective when deployed in pre - clinical stage of the disease and there is a screening test, the screening test, which is simple, efficient , applicable on a large scale and low cost
- Alternative title
-
Triagem neonatal e tratamento de criança com fenilcetonúria: uma revisão integrativa da literatura
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
Veröffentlichungsversion
begutachtet (peer reviewed)
In: Revista de Pesquisa: Cuidado é Fundamental Online ; 5 (2013) 6 ; 363-371
- Event
-
Veröffentlichung
- (where)
-
Mannheim
- (when)
-
2013
- URN
-
urn:nbn:de:0168-ssoar-54927-6
- Rights
-
Open Access; Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:56 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Time of origin
- 2013
Other Objects (12)
Treatment of child with phenylketonuria: a literature review
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Mountain Child: Systematic Literature Review
Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings
The complete European guidelines on phenylketonuria: diagnosis and treatment
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
Phenylketonuria and BH4 deficiencies
Phenylketonuria and BH4 Deficiencies
Phenylketonuria and BH4 deficiencies
Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis
Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Treatment of child with phenylketonuria: a literature review
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Mountain Child: Systematic Literature Review
Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings
The complete European guidelines on phenylketonuria: diagnosis and treatment
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
Phenylketonuria and BH4 deficiencies
Phenylketonuria and BH4 Deficiencies
Phenylketonuria and BH4 deficiencies
Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis
Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Treatment of child with phenylketonuria: a literature review
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Mountain Child: Systematic Literature Review
Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings
The complete European guidelines on phenylketonuria: diagnosis and treatment
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
Phenylketonuria and BH4 deficiencies
Phenylketonuria and BH4 Deficiencies
Phenylketonuria and BH4 deficiencies
Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis