Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders

BACKGROUND: Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism with autosomal recessive inheritance that may cause life-threatening events. Treatment with triheptanoin, a synthetic seven-carbon fatty acid triglyceride compound with an anaplerotic effe...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Zöggeler, Thomas, Stock, Katharina, Jörg-Streller, Monika, Spenger, Johannes, Konstantopoulou, Vassiliki, Hufgard-Leitner, Miriam, Scholl-Bürgi, Sabine, Karall, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7807521/
https://ncbi.nlm.nih.gov/pubmed/33446227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01635-x
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