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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...
Autores principales: | Jager, Emmalie A., Schaafsma, Merit, van der Klauw, Melanie. M., Heiner‐Fokkema, M. Rebecca, Derks, Terry G. J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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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 |
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