A contemporary review of the relationship between red meat consumption and cardiovascular risk

S Bronzato, A Durante - International journal of preventive …, 2017 - journals.lww.com
Cardiovascular diseases burden is increasing due to aging populations and represents one
of the major health issues worldwide. Dietary habits have been extensively studied in the …

A comprehensive study of disease-causing variants in PAH, QDPR, PTS, and PCD genes in Iranian patients with hyperphenylalaninemia: a systematic review

M Ghanei, SH Sadat Fatemi, T Hamzehlouei - Human Heredity, 2023 - karger.com
Background: Hyperphenylalaninemia (HPA) is an autosomal recessive disorder that results
from a deficiency in the phenylalanine hydroxylase enzyme (PAH) or from a flaw in the …

Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes

M Razipour, E Alavinejad, SZ Sajedi, S Talebi… - Metabolic brain …, 2017 - Springer
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is
caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide …

[HTML][HTML] Incidence of Neonatal Hyperphenylalaninemia based on high-performance liquid chromatography confirmatory technique in Mazandaran Province, Northern …

A Abbaskhanian, D Zamanfar, P Afshar… - … journal of preventive …, 2017 - ncbi.nlm.nih.gov
Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this
study was to assess epidemiological factors of PKU phenotypes in a neonatal screening …

[HTML][HTML] Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran

M Bagheri, IA Rad, NH Jazani, R Zarrin… - Iranian journal of basic …, 2015 - ncbi.nlm.nih.gov
Objective (s): Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe)
metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase …

[HTML][HTML] Association between PAH mutations and VNTR alleles in the West Azerbaijani PKU patients

M Bagheri, IA Rad, NH Jazani, R Zarrin, A Ghazavi - Maedica, 2014 - ncbi.nlm.nih.gov
Conclusions: The present report is the first in its own kind in the west Azerbaijani population
(Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is …

[HTML][HTML] Investigation of exon 4 mutations of phenylalanine hydroxylase gene in phenylketonuria patients in Guilan Province using PCR-sequencing

N Pourvatan, Z Khazaei-Koohpar - Feyz Medical Sciences Journal, 2018 - feyz.kaums.ac.ir
Background: Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic
disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) …

[PDF][PDF] Molecular analysis of exon 6 mutations of phenylalanine hydroxylase gene in phenylketonuria patients from Guilan province

N Madadi, Z Khazaei Koohpar, N Ranji - Razi J Med Sci, 2019 - researchgate.net
Background: Phenylketonuria (PKU) is a metabolic disorder caused by mutations in the
phenylalanine hydroxylase (PAH) gene. After thalassemia, PKU is considered as the most …

Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran.

E Hosseini, SS Mousavi, D Zamanfar… - Clinical …, 2022 - search.ebscohost.com
Background: Phenylketonuria (PKU) is the most common aminoacidopathy with an
autosomal recessive inheritance pattern. A global PKU prevalence is estimated about 6.002 …

[HTML][HTML] Identification of a novel mutation in the PAH gene in an Iranian phenylketonuria family: a case report

M Razipour, D Kooshavar, E Alavinejad… - Iranian journal of …, 2017 - ncbi.nlm.nih.gov
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal
recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase …