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Special Issue "Genetic Metabolic Diagnostics"
A special issue of Metabolites (ISSN 2218-1989).
Deadline for manuscript submissions: closed (31 August 2019).
Interests: inborn errors of metabolism; untargeted metabolomics; genetic metabolic diagnostics; disease discovery
With unprecedented pace, the number of known inborn errors of metabolism (IEM) is expanding. Whole-exome sequencing and whole-genome sequencing are swiftly finding their way into diagnostic practice. Similarly, the possibilities offered by recent technical improvements in metabolic diagnostics are enormous. These improvements include, amongst others, the implementation of untargeted metabolomics in metabolic diagnostics and the integration of the various -omics methodologies. These developments have led to the discovery of novel IEM and to faster and better diagnostics.
This Special Issue is devoted to the most recent advances in genetic metabolic diagnostics, and is now open for submissions. Topics that will be covered by this Special Issue include, but are not limited to: developments in novel metabolic diagnostic methods, the identification of metabolites with clinical relevance for patients with IEM, -omics data integration, and novel pathophysiological insights into IEM. Manuscripts including reviews dealing with other challenging issues with respect to genetic metabolic diagnostics will also be considered. We are looking forward to receiving your submissions.
Dr. J.J.M. (Judith) Jans
Prof. Dr. N.M. (Nanda) Verhoeven-Duif
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Metabolites is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- inborn errors of metabolism
- genetic metabolic diagnostics
- biochemical genetics
- untargeted metabolomics