Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome

G. Tóth, Eva Morava-Kozicz, J. Bene, J. J.M. Selhorst, H. Overmars, P. Vreken, J. Molnár, V. Farkas, B. Melegh

Research output: Contribution to journalArticle

7 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)421-422
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume24
Issue number3
DOIs
StatePublished - Aug 6 2001
Externally publishedYes

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Leigh Disease
Cerebellar Ataxia
Carnitine
Muscular Diseases
Mitochondrial DNA
Intellectual Disability
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome. / Tóth, G.; Morava-Kozicz, Eva; Bene, J.; Selhorst, J. J.M.; Overmars, H.; Vreken, P.; Molnár, J.; Farkas, V.; Melegh, B.

In: Journal of Inherited Metabolic Disease, Vol. 24, No. 3, 06.08.2001, p. 421-422.

Research output: Contribution to journalArticle

Tóth, G. ; Morava-Kozicz, Eva ; Bene, J. ; Selhorst, J. J.M. ; Overmars, H. ; Vreken, P. ; Molnár, J. ; Farkas, V. ; Melegh, B. / Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome. In: Journal of Inherited Metabolic Disease. 2001 ; Vol. 24, No. 3. pp. 421-422.
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