Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report
英文:
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with Parkinsonism: A case report
著者
和文:
A. Kikuchi,
A. Takeda,
K. Fujihara,
T. Kimpara,
Y. Shiga,
H. Tanji,
M. Nagai,
H. Ichinose,
F. Urano,
N. Okamura,
H. Arai,
Y. Itoyama.
英文:
A. Kikuchi,
A. Takeda,
K. Fujihara,
T. Kimpara,
Y. Shiga,
H. Tanji,
M. Nagai,
H. Ichinose,
F. Urano,
N. Okamura,
H. Arai,
Y. Itoyama.