Self-paced courses
For researchers
Topics
Topics
Enroll
Hereditary metabolic disorders
Self-paced courses
20 min
Public Access
What you'll learn
The course explains basic principles of dominant and recessive monogenetic diseases. Representative examples of genetic diseases stemming from dysfunctional enzymes, which are called enzymopathies are provided. A gain-of-function and loss-of-function mutations are discussed as well.
Who it´s for
Researchers
Course objectives
1) Understand basic differences between recessive and dominant monogenetic diseases.
2) Understand principles of diseases caused by enzymatic dysfunction.
3) Learn about the mechanisms of lysosomal storage diseases.
Completion & certification
Open access course with no certification.