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Article

[Segawa's disease].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 2000

Ichinose H

Abstract excerpt

Segawa's disease (dopa-responsive dystonia) is caused by a genetic mutation in the gene for GTP cyclohydrolase I, a rate-limiting enzyme for the biosynthesis of tetrahydrobiopterin. Although the causative gene was identified, many issues remain to be addressed in this disease. In this short article, we have described and discussed the relevance of measurement of GTP cyclohydrolase I activity in...

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PMID: 11464480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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