SMi Source Lesson Lysosomal Storage Disorders

  • SMi Source lesson Lysosomal Storage Disorders has the following microlearning topics

    • 1. Lysosomal Storage Disorders: Introduction

    2. Cellular Components and Function

    3. Glycoprotein, N-Glycan, O-Glycan

    4. Cellular Trafficking

    5. Knowledge Check: Biosynthetic/Secretory pathway

    6. Knowledge Check: Endoplasmic Reticulum

    7. Lysosomes

    8. Knowledge Check: Molecular Tag

    9. Knowledge Check: pH of Lysosome

    10. Knowledge Check: Lysosomal Anatomy

    11. Lysosomal Storage Disorders: Overview and Definition

    12. Genetics

    13. Knowledge Check: Cause of LSDs

    14. Knowledge Check: Mendelian Pattern of Most LSDs

    15. Clinical Presentation and Manifestations

    16. Epidemiology

    17. Knowledge Check: Clinical Features of LSDs

    18. Knowledge Check: LSDs Affect on Live Births

    19. Classification

    20. Classification: Mucolipidoses and Sphingolipidoses

    21. Classification: Oligosaccharidoses, Cystinosis, and Niemann-Pick Type C Disease

    22. Disease Burden

    23. Knowledge Check: Major Macromolecules Accumulated from LSD Classes

    24. Knowledge Check: Hunter and Sanfilippo Syndrome

    25. Diagnostic Components

    26. Diagnostic Components/Diagnostic Confirmation

    27. Disease-Modifying Therapy

    28. Enzyme Replacement Therapy (ERT)

    29. Substrate Reduction Therapy (SRT)

    30. Hematopoietic Stem Cell Transplantation

    31. Knowledge Check: Enzyme Replacement Therapy Adverse Events

    32. Knowledge Check: Methods of Drug Administration

    33. Knowledge Check: Enzyme Therapies and the Blood Brain Barrier

    34. Lysosomal Storage Disorders: Summary

  • Lesson Lysosomal Storage Disorders teaches these concepts

    • Lysosomal Storage Disorders

    Lysosomal Storage Disorders: Introduction

  • Lesson Lysosomal Storage Disorders addresses these key points

    • Lysosomal Anatomy and Physiology

    • Cellular components and function
      • Cellular trafficking
    • Lysosomes

    Lysosomal Storage Disorders

    • Overview and definition
    • Epidemiology
    • Classification
    • Disease burden

    Diagnosis and Treatment

    • Diagnostic components
    • Treatment

    Future Directions and Research

  • Lesson Lysosomal Storage Disorders is built from these main references. Log into SMi Source for a complete list and details.

    • Krasnewich DM and Sidransky E. The Lysosomal Storage disorders. Ch 125 in Goldman: Goldman’s Cecil Medicine, 24th Ed. 2014. Saunders, an Imprint of Elsevier.

    Pastores GM. Inborn Errors of Metabolism of the Nervous System. Ch 62 in Daroff: Bradley’s Neurology in Clinical Practice, 6th Ed. 2012. Saunders, an Imprint of Elsevier.

    Schuchman EH and Wasserstein MP. Lysosomal Storage disorders: Perspectives and Principles. Ch 51 in Hoffman: Hematology: Basic Principles and Practice, 6th Ed. 2012. Saunders, an Imprint of Elsevier.

  • Lesson Lysosomal Storage Disorders introduces and defines these terms

    • LSDs = Lysosomal Storage Disorders

    LSDs: A diverse group of genetic disorders caused by defective lysosomal function.