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The Scientific World Journal
Volume 2013, Article ID 625824, 8 pages
http://dx.doi.org/10.1155/2013/625824
Research Article

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

1Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy
2Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy
3Buck Institute for Research on Aging, 8001 Redwood Blvd., Novato, CA 94945, USA
4Newborn Screening Biochemistry and Pharmacology Laboratory, Clinic of Paediatric Neurology, A. Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy
5Metabolic Disorders Unit, Neuroscience Department, A. Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy
6Department of Pediatrics, University of Bologna, Via Massarenti 13, 40138 Bologna, Italy
7Pediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, Viale Pieraccini 24, 50139 Florence, Italy

Received 19 August 2013; Accepted 12 September 2013

Academic Editors: G. Briassoulis and R. Gorodischer

Copyright © 2013 Serena Catarzi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Citations to this Article [3 citations]

The following is the list of published articles that have cited the current article.

  • CuiLi Liang, MinYan Jiang, HuiYing Sheng, YanNa Cai, DongYan Wu, Xi Yin, MinZhi Peng, and Li Liu, “First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China,” Journal Of Pediatric Endocrinology & Metabolism, vol. 28, no. 5-6, pp. 681–684, 2015. View at Publisher · View at Google Scholar
  • Esther Maier, “Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges,” International Journal of Neonatal Screening, vol. 1, no. 3, pp. 79–88, 2015. View at Publisher · View at Google Scholar
  • Ralph Fingerhut, Pascal Joset, Niels Rupp, Martin Girsberger, Susanna Sluka, Theresia Herget, Silvia Azzarello-Burri, Anita Rauch, and Matthias Baumgartner, “MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile,” International Journal of Neonatal Screening, vol. 3, no. 3, pp. 21, 2017. View at Publisher · View at Google Scholar