Associated Papers
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M et al.
Genes, 2021
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
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
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J et al.
Pediatric Research, 2015
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.
Leuzzi V et al.
Journal of Inherited Metabolic Disease, 2006
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
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