Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

BACKGROUND: Mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects are a group of inherited metabolic diseases. We performed a retrospective cohort study to report on the phenotypic and genotypic spectrum of mitochondrial long-chain fatty acid oxidation and carnitine metaboli...

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Detalles Bibliográficos
Autores principales: Ambrose, Anastasia, Sheehan, Melissa, Bahl, Shalini, Athey, Taryn, Ghai-Jain, Shailly, Chan, Alicia, Mercimek-Andrews, Saadet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479237/
https://www.ncbi.nlm.nih.gov/pubmed/36109795
http://dx.doi.org/10.1186/s13023-022-02512-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479237/
https://www.ncbi.nlm.nih.gov/pubmed/36109795
http://dx.doi.org/10.1186/s13023-022-02512-5

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