Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
Passaretti M et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2022
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.
Vela-Amieva M 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
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
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M et al.
Pediatric Neurology, 2019
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M et al.
Scientific Reports, 2017
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
[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
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 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
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
Romstad A et al.
Clinical Chemistry, 1999
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.
Imamura T et al.
Journal of Human Genetics, 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 a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
Liu TT et al.
Human Genetics, 1996
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
Oppliger T et al.
The Journal of Biological Chemistry, 1995