Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs-Reference-Cited by-同舟云学术

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Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs

Published:2021-08 Issue:7 Volume:43 Page:759-767
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Kim WooJoong,Cho Jae So,Shim Young Kyu,Ko Young Jun,Choi Sun Ah,Kim Soo Yeon,Kim Hunmin,Lim Byung Chan,Hwang Hee,Choi Jieun,Kim Ki Joong,Kim Man Jin,Seong Moon-Woo,Chae Jong-Hee

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference74 articles.

1. Hereditary progressive dystonia with marked diurnal fluctuation;Segawa;Adv Neurol,1976

2. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene;Ichinose;Nat Genet,1994

3. High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening;Hagenah;Neurology,2005

4. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease);Segawa;Ann Neurol,2003

5. Dopa-responsive dystonia revisited;Tadic;Arch Neurol,2012

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Three-Dimensional Gait Analysis as a Biomarker for GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia;Pediatric Neurology;2024-05

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