Associated Papers
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
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 › EXAC_PAH
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Pecimonova M et al.
General Physiology and Biophysics, 2017
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Polak E et al.
Gene, 2013
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Réblová K et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Select a paper to view details