Lysosomal Storage Diseases

Dear Colleagues,

Lysosomal storage diseases (LSDs) comprise a group of over 50 genetically inherited disorders that are characterized by accumulation of undigested material inside the lysosome, most often caused by a deficiency of the enzyme normally responsible for catabolism of various molecules derived from cellular turnover. This condition results in accumulation of the undegraded substrate in various tissues and organs of the body causing these organs to function less efficiently, resulting in progressive deterioration in physical and/or mental state, and eventually cell degeneration.

This Topical Collection provides an open access opportunity for investigators to contribute with original research articles as well as review articles that will allow a better understanding of the biochemical and molecular physiopathology underlying LSDs, potential biomarkers of disease progression and new therapeutic strategies to treat these diseases, and evaluation of treatment efficiency.

Potential topics include, but are not limited to:

• Recent progress in LSDs research
• Diagnosis of LSDs
• Technological developments in newborn and population screening
• New pathophysiological mechanisms involved in LSDs
• Biomarkers in disease staging, monitoring, and efficiency of treatment
• Recent advances in treatment and drug delivery

Prof. Dr. Jose A. Sanchez-Alcazar
Dr. Luis M. Jiménez Jiménez
Collection Editors

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. Diseases 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 1800 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.