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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Mar 28, 2024
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Records 1 - 12 (of 12 Records)
Query Trace:
Phenylketonuria[original query]>>Evidence Synthesis [Product Type]
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)
AD Adams et al, Genetics in Medicine, July 20, 2023
Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism.
Appelberg Kajsa et al. The Journal of pediatrics 2022
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Protein status of people with phenylketonuria: a scoping review protocol.
Firman Sarah et al. BMJ open 2021 11(9) e049883
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Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness.
Chen Huey-Fen et al. Children (Basel, Switzerland) 2021 8(5)
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Improving the Diagnosis of Phenylketonuria by Using a Machine Learning-Based Screening Model of Neonatal MRM Data.
Zhu Zhixing et al. Frontiers in molecular biosciences 2020 7115
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CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet Danique et al. Orphanet journal of rare diseases 2018 Aug 13(1) 149
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Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.
Medford Emma et al. JIMD reports 2018 39107-116
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The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.
El-Metwally Ashraf et al. BioMed research international 2018 20187697210
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Living with a rare disorder: a systematic review of the qualitative literature.
von der Lippe Charlotte et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 758-773
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An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon Kittiphong et al. PLoS ONE 10(8) e0134782
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Austrian Newborn Screening Program: a perspective of five decades.
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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