1. Shaykholeslam Esfahani M, Vallian S. A.comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. Eur J Med Genet 2019;62(9): 1-6 [
DOI:10.1016/j.ejmg.2018.10.011] [
PMID]
2. Moradi K, Alibakhshi R, Ghadiri K et al.. Molecular analysis of exon 6 and 7 of phenylalanine hydroxylase gene mutations in phenylketonuria patients in western Iran. Indian J Hum Genet 2012;18(3): 290-93. [
DOI:10.4103/0971-6866.107978] [
PMID] [
PMCID]
3. Williams RA, Mamotte CD, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev 2008;29(1): 31-41. [
PMID] [
PMCID]
4. Zare-Karizi S, Hosseini-Mazinani SM, Khazaei-Koohpar Z, Seifati SM, Shahsavan-Behboodi B, Akbari MT, et al. Mutation spectrum of phenylketonuria in Iranian population. Mol Genet Metab 2011;102(1): 29-32. [
DOI:10.1016/j.ymgme.2010.09.001] [
PMID]
5. Razipour M, Alavinejad E, Sajedi S Z et al. Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes. Metab Brain Dis 2017, 32(5): 1685-91. [
DOI:10.1007/s11011-017-0048-7] [
PMID]
6. Alibakhshi R, Moradi K, Biglari M, Shafieenia S. Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles. Iran J Med Sci 2018,43(3): 318-23. [
DOI:10.1080/03630269.2019.1584114] [
PMID]
7. Zamanfar D, Jalali H, Mahdavi M R, Maadanisani M, Zaeri H, Asadpoor E. Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran. Int J Prev Med 2017;8(89): 1-4. [
PMID] [
PMCID]
8. Bonyadi M, Omrani O, Mohamadi Moghanjoghi S, Shiva S. Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria. Genet Test Mol Biomarkers 2010; 14: 233-5. [
DOI:10.1089/gtmb.2009.0153] [
PMID]
9. Vallian S, Barahimi E, Moeini H. Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan. Mutat Res Fund Mol Mech Mut 2003; 526: 45-52. [
DOI:10.1016/S0027-5107(03)00015-0] [
PMID]
10. Hamzehloei T, Hosseini S.A, Vakili R, Mojarad M. Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran. Gene 2012;506(1): 230-32. [
DOI:10.1016/j.gene.2012.06.043] [
PMID]
11. Ajami, N, Kazeminezhad S.R, Foroughmand A.M, Hasanpour M,and Aminzadeh. M, A. A preliminarymutation analysis of phenylketonuria in southwest. Iran. Genet Mol Res 2013; 12(4) 4958-66. [
DOI:10.4238/2013.October.24.7] [
PMID]
12. Biglari A, Saffari F, Rashvand Z, Alizadeh S,Najafipour R, Sahmani M, et al. Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria. SpringerPlus 2015; 4: 542. [
DOI:10.1186/s40064-015-1309-8] [
PMID] [
PMCID]
13. Shirzad T, Saeidian A H, Bagherian H, Salehpour S, Setoodeh A, Alaei M, et al. Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. J Inherit Metab Dis 2018;1-9. [
DOI:10.1007/s10545-018-0228-6] [
PMID]
14. Alibakhshi R., Moradi K, Mohebbi Z.Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations. Metab Brain Dis 2014;29(1): 131-38. [
DOI:10.1007/s11011-013-9432-0] [
PMID]
15. Bagheri M, Abdi Rad I, Hosseini-jazani N, Zarrin R, Ghazavi A. Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran. Iran J Basic Med Sci 2015; 18: 649-53. [
PMID]
16. Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Özer I et al. Molecular genetics and impact of residualin vitrophenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Mol Genet Metab 2011;10: 116-21. [
DOI:10.1016/j.ymgme.2010.11.158] [
PMID]
17. Yu W, He J, Yang X, Zou H, Gui J, Wang R, Yang L, Wang Z, Lei Q. Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China. Int J Clin Exp Med 2014;7(11): 4406-12. [
PMID] [
PMCID]
18. Baturina O A, Tupikin A E, Lukjanova T V, Sosnitskaya S V, Morozov V L.. Pah and qdpr deficiency associated mutations In the novosibirsk region of the russian federation: correlation Of mutation type with disease manifestation and severity. J Med Biochem 2014;33: 333-40. [
DOI:10.2478/jomb-2014-0019]
19. Guldberg P, Romano V, Ceratto N et al.Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in Southern Europe. Hum Mol Gen 1993;2(10): 1703-07. [
DOI:10.1093/hmg/2.10.1703] [
PMID]
20. Haerian Ardakani H, Khazaei Koohpar Z,Mohammadian S. Mutations Analysis of exon 10 -11 of phenylalanine Hydroxylase gene in phenylketonuria patients from Golestan province. Razi J Med Sci 2018. 25(172): 39-46. [
Google Scholar]