Diagnosis and Management of Lysosomal Storage Diseases in Specific Body Organs and Systems
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: 30 November 2024 | Viewed by 2641
Special Issue Editors
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS)
Special Issues, Collections and Topics in MDPI journals
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSD)
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Lysosomal storage diseases (LSDs) are a group of monogenic metabolic disorders associated with the dysfunction of lysosomal apparatus. Virtually every cell in the body possesses lysosomes, yet storage in these organelles can vary even among various cells. The clinical phenotype is quite heterogeneous, affecting multiple organs and systems, reflecting also the complexity of their pathomechanism. Even though our knowledge of LSD has increased, and many therapies have been established, many aspects of their presentation remain ambiguous.
The aim of this Special Issue is to provide a comprehensive overview of clinical presentation, diagnostics and treatment, focusing on specific body organs and systems.
Potential topics include, but are not limited to, the following:
Liver in LSD;
Cardiac involvement in LSD;
Skeletal complications in LSD;
Respiratory system involvement in LSD;
Central and peripheral nervous systems abnormalities in LSD;
Biomarkers in LSD diagnostics;
Genetics, inheritance, founder effects and genotype-phenotype correlation.
Dr. Patryk Lipiński
Prof. Dr. Anna Tylki-Szymańska
Guest Editors
Manuscript Submission Information
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Keywords
- lysosomal storage diseases
- clinical phenotype
- genotype–phenotype correlation
- biomarkers
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