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

2021 ◽  
Author(s):  
WooJoong Kim ◽  
Jae So Cho ◽  
Young Kyu Shim ◽  
Young Jun Ko ◽  
Sun Ah Choi ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Diagnostic Delay ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase

A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia

1999 ◽  
Vol 6 (5) ◽  
pp. 605-608 ◽  
Author(s):  
Elena D. Markova ◽  
Pyotr A. Slominsky ◽  
Sergei N. Illarioshkin ◽  
Natalya I. Miklina ◽  
Svetlana N. Popova ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
Clinical Presentations ◽  
I Gene

Autosomal Dominant GTP Cyclohydrolase I [adGTPCH] Deficiency

2009 ◽  
pp. 195-195
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

2006 ◽  
Vol 21 (5) ◽  
pp. 679-682 ◽  
Author(s):  
Lena Elisabeth Hjermind ◽  
Lis Gitte Johannsen ◽  
Nenad Blau ◽  
Ron Allan Wevers ◽  
Christoph-Burkhard Lucking ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
Early Onset Parkinson’S Disease
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