Special Issue "New Developments in Biomarkers and Therapies for Inborn Errors of Metabolism"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (30 June 2016) | Viewed by 6736
2. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues, Collections and Topics in MDPI journals
In the recent years, the development of genomic, metabolomic, and proteomic technologies has contributed to a notable increase in identifying new biomarkers for inborn errors of metabolism (IEM). Biomarkers, indicators of pathological processes, can be very helpful in diagnosis, choosing the right time to start treatment, monitoring treatment, assessing pharmacologic responses to a therapeutic intervention and prognostic evaluation of IEM. There have also been significant advances in the development of new therapies for IEM including enzyme replacement, autologous gene-modified stem cell transplant, and gene therapies. The introduction of new tests enabling newborn screening for many disorders including Niemann Pick Type A and B, Krabbe, MPS I and II, Gaucher, Pompe, Fabry, and ALD will undoubtedly incite researchers to develop new biomarkers and better treatments for IEM.
This Special Issue will focus on: (1) the current use of biomarkers in the clinical setting and the development of promising new markers for diagnosis and management of IEM; (2) new therapeutic interventions for IEM; and (3) research on the use and/or development of new biomarkers in the assessment of these new therapeutic interventions. Original research papers, case reports, mini and full reviews, and commentaries are all welcome.
Dr. Can Ficicioglu
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.
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. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly 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.
- inherited metabolic diseases
- lysosomal storage disorders
- gene therapy
- enzyme replacement therapy
- substrate reduction therapy
- pharmacological chaperons