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
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
Khatami S et al.
Jimd Reports, 2017
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations.
Foroozani H et al.
Jimd Reports, 2015
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Lu DY et al.
World Journal of Pediatrics : Wjp, 2014
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Dihydropteridine reductase deficiency in man: from biology to treatment.
Ponzone A et al.
Medicinal Research Reviews, 2004
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
de Sanctis L et al.
Journal of Inherited Metabolic Disease, 2000
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Dianzani I et al.
Human Mutation, 1998
Molecular basis of dihydropteridine reductase deficiency.
Smooker PM et al.
Human Mutation, 1995
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