ArticleAnnals of translational medicine2019
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.
Article in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.EXCLI journal · 2026Article
- Development and validation of machine-learning models of diet management for hyperphenylalaninemia: a multicenter retrospective study.BMC medicine · 2024Observational
- A low abundance of genusTranslational pediatrics · 2021Article
- Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.Molecular genetics and metabolism reports · 2020Article
- Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis.Sage open pediatricsReview
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeonatal hyperphenylalaninemia (HPA) screening did not begin until 2009 in the Uygur population because of poor medical and economic conditions. This study intended to investigate HPA incidence rate and characterize mutation spectrum of phenylalanine hydroxylase (
methodsCross-sectional data of National Direct Reporting System database from 2009 to 2016 were used to calculate incidence rate. All HPA positive newborns were diagnosed and confirmed by Sanger sequencing. A low Phe diet was implemented.
resultsA total of 580,608 Uygur neonates were screened, 111 were diagnosed with HPA with an incidence rate of 1:5,230, 58 different mutations in
conclusionsThis is the first study to investigate HPA incidence rate in the Uygur population. Our study highlights regional differences in
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