• "Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening
• Allelic dropout in <em>PAH</em> affecting the results of genetic diagnosis in phenylketonuria
• Analysis of pathogenicity and genotype-phenotype correlation of the c.158G&gt;A variant of phenylalanine hydroxylase gene
• Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia
• Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life
• Cognitive functioning in mild hyperphenylalaninemia
• Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
• Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.
• Follow-up of two newborns with c.158G&gt;A (p.Arg53His) mutation in gene and assessment of the site function
• Genetic etiology and clinical challenges of phenylketonuria
• Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations
• In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening
• Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting
• Reassessing the significance of the PAH c.158G&gt;A (p.Arg53His) variant in patients with hyperphenylalaninemia
• Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
• Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency
• Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape
• Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing
• What should the paediatrician know about hyperphenylalaninaemia?