Associated Papers
Clinical, Biochemical, and Radiologic Profiles of Filipino Patients with 6-Pyruvoyl-Tetrahydrobiopterin Synthase (6-PTPS) Deficiency and their Neurodevelopmental Outcomes.
de Castro-Hamoy LG et al.
Acta Medica Philippina, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients.
Tan M et al.
Annals of Human Genetics, 2022
Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India.
Tamrakar A et al.
Cureus, 2022
Psychiatric Manifestations in Patients with Biopterin Defects.
Parfyonov M et al.
Neuropediatrics, 2022
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.
Vela-Amieva M et al.
Frontiers in Genetics, 2022
Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.
Xie K et al.
Frontiers in Genetics, 2022
Clinical, biochemical and molecular spectrum of mild 6-pyruvoyl-tetrahydropterin synthase deficiency and a case report.
Song B et al.
Fetal and Pediatric Pathology, 2021
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Bozaci AE et al.
Jimd Reports, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 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
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Manzoni F et al.
Molecular Genetics and Metabolism, 2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carducci C et al.
Jimd Reports, 2020
Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.
Galosi S et al.
Movement Disorders Clinical Practice, 2020
[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
Su R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M et al.
Pediatric Neurology, 2019
Outcome of Patients With Inherited Neurotransmitter Disorders.
Cordeiro D et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
Mercimek-Mahmutoglu S et al.
Orphanet Journal of Rare Diseases, 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
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH et al.
Journal of Human Genetics, 2012
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Leuzzi V et al.
Clinical Genetics, 2010
Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.
Vatanavicharn N et al.
Journal of Inherited Metabolic Disease, 2009
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
Qu YJ et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2008
6-pyruvoyltetrahydropterin synthase deficiency two-case report.
Pangkanon S et al.
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2006
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Liu TT et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2001
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Dudesek A et al.
European Journal of Pediatrics, 2001
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
Liu TT et al.
Human Mutation, 2001
[Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
Ye J et al.
Zhonghua Yi Xue Za Zhi, 2000
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
Romstad A et al.
Clinical Chemistry, 1999
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
Liu TT et al.
Human Mutation, 1998
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Thöny B et al.
Human Mutation, 1997
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
Oppliger T et al.
Human Mutation, 1997