Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report-Reference-Cited by-同舟云学术

Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report

Published:2004-05 Issue:5 Volume:19 Page:590-593
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Kikuchi Akio,Takeda Atsushi,Fujihara Kazuo,Kimpara Teiko,Shiga Yusei,Tanji Hiroaki,Nagai Makiko,Ichinose Hiroshi,Urano Fumi,Okamura Nobuyuki,Arai Hiroyuki,Itoyama Yasuto

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference18 articles.

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

3. Characterization of mouse and human GTP cyclohydrolase I genes.Mutations in patients with GTP cyclohydrolase I deficiency;Ichinose;J Biol Chem,1995

4. Concentrations of neopterin and biopterin in the cerebrospinal fluid of patients with Parkinson's disease;Fujishiro;Biochem Med Metab Biol,1990

5. 18F-fluorodopa PET study of striatal dopamine uptake in the diagnosis of dementia with Lewy bodies;Hu;Neurology,2000

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