New Developments in Biomarkers and Therapies for Inborn Errors of Metabolism

Dear Colleagues,

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
Guest Editors

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