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

G. Tóth, É Morava, 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
Pages (from-to)421-422
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume24
Issue number3
DOIs
Publication statusPublished - 2001

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome. / Tóth, G.; Morava, É; 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, 2001, p. 421-422.

Research output: Contribution to journalArticle

Tóth, G. ; Morava, É ; 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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AU - Vreken, P.

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