Associated Papers
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 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 exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure.
Wang A et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.
Wang X et al.
Orphanet Journal of Rare Diseases, 2021
Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.
Chen Y et al.
Frontiers in Pediatrics, 2020
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
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 six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
Gu Y et al.
Plos One, 2014
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH et al.
Journal of Human Genetics, 2012