Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
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
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children.
Zhu S et al.
Heliyon, 2024
Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.
Lin J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.
Qiu X et al.
Frontiers in Genetics, 2023
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
Sadat Fatemi SH et al.
Molecular Genetics & Genomic Medicine, 2022
Psychiatric Manifestations in Patients with Biopterin Defects.
Parfyonov M et al.
Neuropediatrics, 2022
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
Li N et al.
Brain : a Journal of Neurology, 2022
Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria.
Gao H
Evidence-based Complementary and Alternative Medicine : Ecam, 2022
Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.
Li J et al.
Frontiers in Genetics, 2022
Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.
Li L 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
[Screening results and genetic analysis of neonatal tetrahydrobiopterin deficiency in Hainan Province from 2007 to 2019].
Huang CD et al.
Zhonghua Yi Xue Za Zhi, 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
[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
Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.
Wang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M et al.
Pediatric Neurology, 2019
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
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Chaiyasap P et al.
Bmc Medical Genetics, 2017
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.
Han B et al.
Brain & Development, 2015
Genetics of monoamine neurotransmitter disorders.
Siu WK
Translational Pediatrics, 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
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Hui J et al.
Pathology, 2014
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH et al.
Journal of Human Genetics, 2012
Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
Niu DM
Brain & Development, 2011
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.
Kurian MA et al.
The Lancet. Neurology, 2011
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Leuzzi V et al.
Clinical Genetics, 2010
Disorders of biopterin metabolism.
Longo N
Journal of Inherited Metabolic Disease, 2009
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].
Gu MQ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].
Qu YJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Lee NC et al.
Molecular Genetics and Metabolism, 2006
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
Ye J et al.
Chinese Medical Journal, 2002
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
Chien YH et al.
Journal of Inherited Metabolic Disease, 2001
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Liu TT et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2001
[Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese].
Ye J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
Blau N et al.
Human Mutation, 2000
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
Liu TT et al.
Human Mutation, 1998