Associated Papers
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
Wang Q et al.
Orphanet Journal of Rare Diseases, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Al Khudari R et al.
Orphanet Journal of Rare Diseases, 2025
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
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
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
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.
Vela-Amieva M et al.
Frontiers in Genetics, 2022
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Bozaci AE et al.
Jimd Reports, 2021
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Tristán-Noguero A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Outcome of Patients With Inherited Neurotransmitter Disorders.
Cordeiro D et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2018
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.
Li N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
Boemer F et al.
Scientific Reports, 2017
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M et al.
Scientific Reports, 2017
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
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
Cao YY et al.
Molecular Genetics and Metabolism, 2014
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
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.
Ye J et al.
Journal of Inherited Metabolic Disease, 2013
[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
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
Smooker PM et al.
Human Mutation, 1999
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