Genetic Metabolic Diagnostics Volume II
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".
Deadline for manuscript submissions: closed (28 February 2021) | Viewed by 364
Special Issue Editor
Interests: metabolomics; diagnostics; malate aspartate shuttle; red blood cell metabolism
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The number of known inborn errors of metabolism (IEM) is expanding at an unprecedented pace. 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, among others, the implementation of untargeted metabolomics in metabolic diagnostics and the integration of 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 look forward to receiving your submissions.
Dr. J.J.M. (Judith) Jans
Guest Editor
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 submissions that pass pre-check are 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.
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