Special Issue "Lysosomal Storage Disorders: Causes, Symptoms, Diagnosis, and Treatment"
Deadline for manuscript submissions: closed (31 January 2020).
In decades, remarkable progress has been made in our understanding of the molecular bases of lysosomal storage disorders (LSDs). To date, more than 50 different LSDs have been described, with an overall prevalence of 1 in 5000 live births. However, these figures are likely to increase over time due to increased awareness among the medical community and patients families, as well as the development of improved diagnostic tools.
Indeed, although the diagnosis of these disorders can be challenging due to their highly variable phenotypic expression, the development of diagnostic methods that exploit next-generation sequencing technologies and the discovery of specific and sensible biomarkers of these disorders have resulted in more accurate and earlier diagnosis, offering the possibility to implement early treatment, with a consequent improvement in patients’ long-term clinical outcomes and quality of life.
Almost thirty years have passed since the approval of the first treatment for an LSD. Since then, a variety of therapeutic options for different lysosomal disorders have been developed, including enzyme replacement therapy, enzyme enhancement therapy, hematopoietic stem cell transplantation, gene therapy, and substrate reduction therapy. In addition, the progress made in our knowledge of the pathophysiologic mechanisms of these disorders has led to the continuous discovery of new therapeutic targets and the development of innovative therapeutic approaches.
This Special Issue aims at providing an update of the recent advances in the field of diagnosis and treatment of lysosomal storage disorders.
Dr. Andrea Dardis
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2200 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.
- Lysosomal storage diseases
- Molecular diagnosis
- Enzyme replacement therapy
- Gene therapy
- Substrate reduction therapy
- Molecular chaperons.