Associated Papers
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
Bonfim-Freitas PE et al.
Molecular Genetics & Genomic Medicine, 2023
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E et al.
Orphanet Journal of Rare Diseases, 2015
The molecular basis of phenylketonuria in Lithuania.
Kasnauskiene J et al.
Human Mutation, 2003
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Hennermann JB et al.
Human Mutation, 2000
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