Monogenic Diseases Guidelines

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This field summarizes the (monogenic) disorders that are associated with this metabolite. The metabobox summarizes the different diseases/conditions that are associated with abnormal concentrations of this metabolite, which can be used as a first inspiration for the description of this field. The following can be described per disease/condition in this field:

  1. Why is this metabolite associated with the disease/condition. What is the association?
  2. Describe the experiments that show the involvement of the metabolite in a disease/condition.
  3. The abnormal concentrations of the metabolite in the disease/condition in human plasma, tissue, urine etc. Please summarize this also in the metabobox.
  4. What can be done to prevent the disorder/disease.