Associated Papers
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › PTS_Short_Var_Pathogenetic
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
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.
Han B et al.
Brain & Development, 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
[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
Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency.
Wang L et al.
Journal of Inherited Metabolic Disease, 2006
Select a paper to view details