scholarly journals Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

2006 ◽  
Vol 77 (1) ◽  
pp. 18-23 ◽  
Author(s):  
J L K Van Hove
Keyword(s):  
Autosomal Dominant ◽  
Gtp Cyclohydrolase ◽  
Segawa Syndrome

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

A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene

2006 ◽  
Vol 108 (8) ◽  
pp. 784-786 ◽  
Author(s):  
Hirokazu Furuya ◽  
Hiroyuki Murai ◽  
Kazuo Takasugi ◽  
Yasumasa Ohyagi ◽  
Fumi Urano ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Novel Mutation ◽  
Gch1 Gene ◽  
Segawa Syndrome

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

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

scholarly journals Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family

2008 ◽  
Vol 7 (3) ◽  
pp. 687-694 ◽  
Author(s):  
C.P. Souza ◽  
E.R. Valadares ◽  
A.L.C. Trindade ◽  
V.L. Rocha ◽  
L.R. Oliveira ◽  
...  
Keyword(s):  
Gtp Cyclohydrolase ◽  
Segawa Syndrome

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency

2010 ◽  
Vol 52 (6) ◽  
pp. 583-586 ◽  
Author(s):  
RUSSELL C DALE ◽  
ANNA MELCHERS ◽  
VICTOR SC FUNG ◽  
PADRAIC GRATTAN-SMITH ◽  
HENRY HOULDEN ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Atypical Presentation ◽  
Gtp Cyclohydrolase ◽  
Exercise Induced
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