Associated Papers
Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.
Fathallah R et al.
Biomedical Reports, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.
Jalali H et al.
International Journal of Preventive Medicine, 2024
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with Phenylketonuria
Namdar Aligoodarzi P et al.
Iranian Biomedical Journal, 2023
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Ghanei M et al.
Human Heredity, 2023
Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.
Peng D et al.
Bmc Medical Genomics, 2021
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
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.
Mao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.
Pieragostino D et al.
Metabolites, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
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 comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.
Esfahani MS et al.
European Journal of Medical Genetics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 2019
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Chen T et al.
Scientific Reports, 2018
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T et al.
Journal of Inherited Metabolic Disease, 2018
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
[Research progress on phenotype and genotype of hyperphenylalaninemia].
Chen T et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2018
Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 2018
Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.
Alibakhshi R et al.
Iranian Journal of Medical Sciences, 2018
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Razipour M et al.
Metabolic Brain Disease, 2017
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
Bayat A et al.
Clinical Genetics, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 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
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Trunzo R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Scala I et al.
Orphanet Journal of Rare Diseases, 2015
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
Cao YY et al.
Molecular Genetics and Metabolism, 2014
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Trunzo R et al.
Clinical Biochemistry, 2013
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T et al.
Gene, 2013
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.
Poulsen L et al.
Plos One, 2011
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2011
Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
Zhu T et al.
Pediatric Research, 2010
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.
Langenbeck U et al.
Journal of Inherited Metabolic Disease, 2009
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Karacić I et al.
Molecular Genetics and Metabolism, 2009
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Daniele A et al.
The Febs Journal, 2009