Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.
Girish A et al.
Journal of Biomolecular Structure & Dynamics, 2024
Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.
Nezhad SRK et al.
Molecular Genetics & Genomic Medicine, 2024
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Rovelli V et al.
Endocrinology, Diabetes & Metabolism, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
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
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
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
Dopamine agonists in dihydropteridine reductase deficiency.
Porta F et al.
Molecular Genetics and Metabolism, 2012
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
Kostandyan N et al.
Molecular Genetics and Metabolism, 2011
[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
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
Romstad A et al.
Human Genetics, 2000
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