Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rotig, Anna Ardissone, Anne Lombes, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego MartinelliWenhong Ding, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joel Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Haberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number120
Number of pages10
JournalOrphanet Journal of Rare Diseases
Volume13
DOIs
Publication statusPublished - 19 Jul 2018

Keywords

  • Complex I
  • Cardiomyopathy
  • Heart transplantation
  • Mitochondrial disorder
  • Lactic acidosis
  • Treatment
  • Prognosis
  • Neonatal
  • Vitamin
  • Activities of daily living
  • COMPLEX-I DEFICIENCY
  • PHENOTYPIC SPECTRUM
  • SKELETAL-MUSCLE
  • OXIDATION
  • MUTATIONS
  • BEZAFIBRATE
  • DISORDERS
  • DIAGNOSIS
  • CELLS
  • PAGE

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