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Original article
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
  1. Sacha Ferdinandusse1,
  2. Kim D Falkenberg1,
  3. Janet Koster1,
  4. Petra A Mooyer1,
  5. Richard Jones2,
  6. Carlo W T van Roermund1,
  7. Amy Pizzino3,
  8. Michael Schrader4,
  9. Ronald J A Wanders1,
  10. Adeline Vanderver3,
  11. Hans R Waterham1
  1. 1Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands
  2. 2Kennedy Krieger Institute, Baltimore, Maryland, USA
  3. 3Department of Neurology, Children's National Health System, Washington DC, USA
  4. 4College of Life and Environmental Sciences, Biosciences, University of Exeter, Exeter, Devon, UK
  1. Correspondence to Dr Sacha Ferdinandusse, Laboratory Genetic Metabolic Diseases, F0-220 Academic Medical Center, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands; S.Ferdinandusse{at}amc.nl;
  2. Hans Waterham, Laboratory Genetic Metabolic Diseases, F0-220 Academic Medical Center, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands; H.R.Waterham{at}amc.uva.nl

Footnotes

  • SF and KDF are co-first authors.

  • Contributors KDF, JK, PM, RJ and CWTR performed laboratory analyses. AP and AV were responsible for the clinical care of the patient, provided the patient’s clinical information and revised the manuscript. SF supervised the study and wrote the manuscript. HRW supervised the study and revised the manuscript. KDF, MS and RJAW revised the manuscript.

  • Funding Supported in part by funding through the Marie Curie Initial Training Networks (ITN) action to KDF, MS and HRW (FP7-2012-PERFUME-316-723). MS is supported by the Biotechnology and Biological Sciences Research Council (BB/K006231/1; BB/N01541X/1).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • SF and KDF are co-first authors.

  • Contributors KDF, JK, PM, RJ and CWTR performed laboratory analyses. AP and AV were responsible for the clinical care of the patient, provided the patient’s clinical information and revised the manuscript. SF supervised the study and wrote the manuscript. HRW supervised the study and revised the manuscript. KDF, MS and RJAW revised the manuscript.

  • Funding Supported in part by funding through the Marie Curie Initial Training Networks (ITN) action to KDF, MS and HRW (FP7-2012-PERFUME-316-723). MS is supported by the Biotechnology and Biological Sciences Research Council (BB/K006231/1; BB/N01541X/1).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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