Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency

K. Hyland, T. G. Nygaard, J. M. Trugman, K. J. Swoboda, L. A. Arnold, S. P. Sparagana

Research output: Contribution to journalArticle

17 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)213-215
Number of pages3
JournalJournal of Inherited Metabolic Disease
Volume22
Issue number3
DOIs
StatePublished - 1999

Fingerprint

GTP Cyclohydrolase
Inborn Genetic Diseases
Dystonia
Heterozygote
Phenylalanine
Oral Administration
Tyrosine
Dopamine
Genes
Dopa-Responsive Dystonia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency. / Hyland, K.; Nygaard, T. G.; Trugman, J. M.; Swoboda, K. J.; Arnold, L. A.; Sparagana, S. P.

In: Journal of Inherited Metabolic Disease, Vol. 22, No. 3, 1999, p. 213-215.

Research output: Contribution to journalArticle

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AU - Swoboda, K. J.

AU - Arnold, L. A.

AU - Sparagana, S. P.

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