共 201 条
[1]
Ajami N.(2013)A preliminary mutation analysis of phenylketonuria in southwest Iran Genet. Mol. Res. 12 4958-4966
[2]
Kazeminezhad S.R.(2015)Phenylketonuria: a review of current and future treatments Transl. Pediatr. 4 304-317
[3]
Foroughmand A.M.(2017)Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype Avicenna, J. Med. Biotechnol. 9 146-149
[4]
Hasanpour M.(2013)Analysis of phenylalanine hydroxylase gene mutations in phenylketonuria patients from Kemerovo oblast and the Sakha Republic Orphanet J. Rare Dis. 8 103-232
[5]
Aminzadeh M.(2012)A mutation analysis of the phenylalanine hydroxylase ( Cytol. Genet. 46 227-309
[6]
Al Hafid N.(2008)) gene in the Israeli population Ann. Hum. Genet. 72 305-235
[7]
Christodoulou J.(2015)Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria SpringerPlus 4 542-384
[8]
Alavinejad E.(2010)Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria Genet. Test. Mol. Bioma. 14 233-1565
[9]
Sajedi S.Z.(2008)Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants Biochim. Biophys. Acta 1782 378-16 908
[10]
Razipour M.(2003)Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria Pediatrics. 112 1557-17