Sylabus
Introduction to biochemical genetics
Hereditary disorders of amino-acid metabolism
Hereditary disorders of saccharide metabolism and protein glycosylation
Disorders of purine and pyrimidine metabolism
Disorders of mitochondrial metabolism; pathobiochemistry of fasting
Hereditary disorders of metabolism and biogenesis of lysosomes and peroxisomes
Diagnosis and therapy of monogenic disorders of metabolism
Anotace
Biochemical basis of inherited metabolic disorders. Overview of their molecular bases, diagnostics and treatment.