ArticleJournal of medical genetics1995
Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BHOrphanet journal of rare diseases · 2020Guideline
- Spectrum ofBiomedical reports · 2025Article
- [Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.Human genomics · 2023Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Study of the l-Phenylalanine Ammonia-Lyase Penetration Kinetics and the Efficacy of Phenylalanine Catabolism Correction Using In Vitro Model Systems.Pharmaceutics · 2021Article
- Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Molecular genetics & genomic medicine · 2021Article
- The Genetic Landscape and Epidemiology of Phenylketonuria.American journal of human genetics · 2020Article
- The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.Annals of translational medicine · 2019Article
- Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age.Orphanet journal of rare diseases · 2018Article
- Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.JIMD reports · 2018Article
- Phenylketonuria: translating research into novel therapies.Translational pediatrics · 2014Review
- Antioxidant treatment strategies for hyperphenylalaninemia.Metabolic brain disease · 2013Review
- Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan.Intractable & rare diseases research · 2013Review
- Phenylketonuria: an inborn error of phenylalanine metabolism.The Clinical biochemist. Reviews · 2008Article
- A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.Genome research · 2000Article
- Sequence variation at the phenylalanine hydroxylase gene in the British Isles.American journal of human genetics · 1997Article
- Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.International journal of health sciencesReview
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100,000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7nt1, R261Q, and IVS2nt1 were each found on a single chromosome. No mutation was found on the remaining chromosome. These findings support a pronounced negative founder effect as the cause of the low incidence of PKU in Finland, and are consistent with existing data regarding the European and Baltic origin of Finnish genes.
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