Associated Papers
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
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.
Odagiri S et al.
International Journal of Neonatal Screening, 2021
33803550 (PubMed )
Supplement: IJNS-07-00017-s001.zip › IJNS-1138821-supplementary.xlsx › ___370_____
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 2019
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Razipour M et al.
Metabolic Brain Disease, 2017
Plasma cholesterol in adults with phenylketonuria.
Williams RA et al.
Pathology, 2015
Phenylketonuria: an inborn error of phenylalanine metabolism.
Williams RA et al.
The Clinical Biochemist. Reviews, 2008
Select a paper to view details