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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Rare Disease

Last data update: Apr 16, 2021. (Total: 39589 Documents since 2012)
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Records 1-8 (of 8 Record(s))
Query Trace: Phenylketonuria[original query]>>Evidence Synthesis[Product Type]
Publication
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
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
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
The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.
El-Metwally Ashraf et al. BioMed research international 2018 20187697210
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
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
Austrian Newborn Screening Program: a perspective of five decades.
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