Associated Papers
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.
Consentino MC et al.
Nutrients, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Rovelli V et al.
Endocrinology, Diabetes & Metabolism, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
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
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Georgiou T et al.
Clinical Biochemistry, 2012
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.
Langenbeck U et al.
Journal of Inherited Metabolic Disease, 2009
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
Bercovich D et al.
Annals of Human Genetics, 2008
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Bercovich D et al.
Journal of Human Genetics, 2008
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.
Rottoli A et al.
Journal of Medical Screening, 1999
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998