The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana… - The American Journal of …, 2020 - cell.com
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
[HTML][HTML] The Prevalence and incidence of congenital phenylketonuria in 59 countries: A systematic review
N Mojibi, S Ghazanfari-Sarabi… - Journal of pediatrics …, 2021 - jpr.mazums.ac.ir
Phenylalanine Hydroxylase (PAH; EC 1.14. 16.1) is a hepatic enzyme, which hydroxylates
the side-chain of Phenylalanine (Phe) to form Tyrosine (Tyr). Furthermore, the deficiency of …
the side-chain of Phenylalanine (Phe) to form Tyrosine (Tyr). Furthermore, the deficiency of …
Mutation analysis of phenylketonuria in the north of Iran
H Nemati, SSK Yousefi, N Pourvatan, R Aparviz… - Gene Reports, 2021 - Elsevier
Phenylalanine hydroxylase (PAH) deficiency is the most common cause of phenylketonuria
(PKU)–an autosomal recessive disorder of phenylalanine metabolism. The aim of this study …
(PKU)–an autosomal recessive disorder of phenylalanine metabolism. The aim of this study …
Analysis of the PAH Gene Mutations in the Ukrainian Population: A Report from the West Ukrainian Region
HV Makukh, LB Chorna, MY Tyrkus, HR Akopyan… - Cytology and …, 2021 - Springer
Phenylketonuria (PKU) is one of the most frequent autosomal recessive diseases caused by
inherited deficiency of phenylalanine hydroxylase (PAH), which is accompanied by …
inherited deficiency of phenylalanine hydroxylase (PAH), which is accompanied by …
[HTML][HTML] INVESTIGATION OF THE CORRELATION BETWEEN VNTR AND PAH GENE MUTATIONS IN PKU PATIENTS IN GUILAN PROVINCE, IRAN
Z Khazaei Koohpar, Z Eskandarpour… - Studies in Medical …, 2022 - umj.umsu.ac.ir
Background & Aims: VNTR alleles in the phenylalanine hydroxylase (PAH) gene are used
for carrier detection and prenatal diagnosis in phenylketonuria families. The aim of this study …
for carrier detection and prenatal diagnosis in phenylketonuria families. The aim of this study …
[PDF][PDF] Аналіз мутацій гена ФАГ в українській популяції, дані з західного регіону України
ГВ Макух, ЛБ Чорна, МЯ Тиркус, ГР Акопян… - Цитологія і …, 2021 - jnas.nbuv.gov.ua
Фенілкетонурія (ФКУ)–одне з найбільш частих аутосомно-рецесивних захворювань,
обумовлених спадковим дефектом фенілаланінгідроксилази (ФАГ), що …
обумовлених спадковим дефектом фенілаланінгідроксилази (ФАГ), що …
[PDF][PDF] بررسی ارتباط بین VNTR و جهشهای ژن PAH در افراد مبتلا به PKU در استان گیلان
خزائی کوهپر, اسکندرپور, کامران… - مجله مطالعات علوم …, 2022 - umj.umsu.ac.ir
Khazaei Koohpar Z, Eskandarpour Z, Kamran SA, Beheshti Dafchahi H, Seyfizadeh
Sarabestani S, Ranji N et al. INVESTIGATION OF THE CORRELATION BETWEEN VNTR …
Sarabestani S, Ranji N et al. INVESTIGATION OF THE CORRELATION BETWEEN VNTR …
[PDF][PDF] A Systematic Review of Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries Running title: Phenylketonuria Worldwide distribution
N Mojibi, S Ghazanfari-Sarabi - researchgate.net
Abstract Background and Objective: Phenylketonuria is the most frequent inborn error of
metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased …
metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased …
[引用][C] Mutation spectrum of the PAH gene in PKU patients in the North of Iran (Guilan province)
ZK Koohpar, SSK Yousefi, H Nemati, R Aparviz… - 2020