Associated Papers
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carducci C et al.
Jimd Reports, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S8_PAH_A
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
van Vliet D et al.
Nutrients, 2019
31731404 (PubMed )
Supplement: nutrients-11-02572-s001.pdf
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.
Yıldız Y et al.
European Journal of Pediatrics, 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
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
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
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
Rivera I et al.
Molecular Genetics and Metabolism, 2011
Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.
Ho PY et al.
Biochemical and Biophysical Research Communications, 2008
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
Bercovich D et al.
Annals of Human Genetics, 2008
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