Associated Papers
Developing iPSC models from phenylketonuria patients with varying PAH gene mutations.
Veleva D et al.
Stem Cell Research, 2026
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Fang Y et al.
Human Genomics, 2023
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › INHOUSE_PAH
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Ho G et al.
Jimd Reports, 2014
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
Kasnauskiene J et al.
Genetika, 2008
The molecular basis of phenylketonuria in Lithuania.
Kasnauskiene J et al.
Human Mutation, 2003
Select a paper to view details