Last Posted: Oct 09, 2019
- Clinical Management of Dystonia in Childhood.
Luc Quyen N et al. Paediatric drugs 2017 Oct 19(5) 447-461
- Study of GCH1 and TH genes in Chinese patients with Parkinson's disease.
Yan Ya-Ping, et al. Neurobiology of aging 2018 0 159.e3-159.e6
- Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.
Nasser Arafat, et al. Pain 2018 6 (6) 1012-1024
- Common and rare GCH1 variants are associated with Parkinson's disease.
Rudakou Uladzislau, et al. Neurobiology of aging 2018 9
- CLINGEN Actionability Report for Dopa-Responsive Dystonia - RB1
ClinGen Actionability Working Group
- Prenatal Genetic Testing for Dopa-Responsive Dystonia - Clinical Judgment in the Context of Next Generation Sequencing.
Nedelea Florina et al. Journal of medicine and life 11(4) 343-345
- GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Dobri?i? Valerija, et al. Parkinsonism & related disorders 2017 9
- Treatable inherited rare movement disorders.
Jinnah H A et al. Movement disorders : official journal of the Movement Disorder Society 2017 Sep
- Low frequency of GCH1 and TH mutations in Parkinson's disease.
Rengmark Aina, et al. Parkinsonism & related disorders 2016 5
- Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.
Shi W T, et al. Genetics and molecular research : GMR 2015 0 (3) 11185-90
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- Alpha-1 Antitrypsin Deficiency
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