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The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation

  • Gregorio León-García1,
  • Alfredo Santana2,
  • Nicolás Villegas-Sepúlveda3,
  • Concepción Pérez-González4,
  • José M Henrríquez-Esquíroz4,
  • Carlota de León-García5,
  • Carlos Wong1 and
  • Isabel Baeza1Email author
BMC Pediatrics201212:150

DOI: 10.1186/1471-2431-12-150

Received: 26 May 2012

Accepted: 17 August 2012

Published: 19 September 2012

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Open Peer Review reports

Pre-publication versions of this article and author comments to reviewers are available by contacting

Original Submission
26 May 2012 Submitted Original manuscript
Resubmission - Version 2
Submitted Manuscript version 2
18 Jun 2012 Reviewed Reviewer Report - Lisbeth B Møller
18 Jun 2012 Reviewed Reviewer Report - Byung-Eun Kim
20 Jul 2012 Author responded Author comments - Isabel Baeza
Resubmission - Version 3
20 Jul 2012 Submitted Manuscript version 3
4 Aug 2012 Reviewed Reviewer Report - Lisbeth B Møller
14 Aug 2012 Reviewed Reviewer Report - Byung-Eun Kim
Resubmission - Version 4
Submitted Manuscript version 4
17 Aug 2012 Editorially accepted
19 Sep 2012 Article published 10.1186/1471-2431-12-150

How does Open Peer Review work?

Open peer review is a system where authors know who the reviewers are, and the reviewers know who the authors are. If the manuscript is accepted, the named reviewer reports are published alongside the article.. All previous versions of the manuscript and all author responses to the reviewers are also available.

You can find further information about the peer review system here.

Authors’ Affiliations

Department of Biochemistry, National School of Biological Sciences, National Polytechnic Institute (IPN)
Centre for Biomedical Research on Rare Disease (CIBERER), Canarias University Hospital, Institute of Biomedical Technologies, University of La Laguna
Department of Molecular Biology, Centre for Research and Advanced Studies, IPN
Department of Paediatrics, Jose Molina-Orosa Hospital
Early Care and Child Development Centre