Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

Willemijn J. van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, Jos P. N. Ruiter, Lonneke de Boer, Annet M. Bosch, Hidde H. Huidekoper, M. Estela Rubio-Gozalbo, Gepke Visser, Monique Williams, Ronald J. A. Wanders, Terry G. J. Derks*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)878-889
Number of pages12
JournalJournal of Inherited Metabolic Disease
Volume42
Issue number5
DOIs
Publication statusPublished - Sep 2019

Keywords

  • disease severity scoring system
  • fatty acid oxidation
  • functional fibroblast studies
  • multiple acyl-CoA dehydrogenase deficiency
  • prognostic marker
  • FATTY-ACID OXIDATION
  • VALIDATED DISEASE
  • BETA-OXIDATION
  • SCORING SYSTEM
  • MUTATIONS
  • FIBROBLASTS
  • DIAGNOSIS
  • FLUX

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