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Plasma carnitine concentrations in Medium‐chain acyl‐CoA dehydrogenase deficiency: lessons from an observational cohort study

Our aim was to study the effect of secondary carnitine deficiency (SCD) and carnitine supplementation on important outcome measures for persons with medium‐chain Acyl–CoA dehydrogenase deficiency (MCADD). We performed a large retrospective observational study using all recorded visits of persons wit...

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Detalles Bibliográficos
Autores principales: Jager, Emmalie A., Schaafsma, Merit, van der Klauw, Melanie. M., Heiner‐Fokkema, M. Rebecca, Derks, Terry G. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796739/
https://www.ncbi.nlm.nih.gov/pubmed/35778950
http://dx.doi.org/10.1002/jimd.12537