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Categories
Genetic and Metabolic Disorders
Patterns of inheritance (autosomal, X-linked, mitochondrial)
Screening and enzyme replacement therapies
Amino acidopathies (PKU, alkaptonuria, maple syrup urine disease)
Inborn errors of metabolism (urea cycle, glycogen storage, lysosomal storage, organic acidemias)
Chromosomal abnormalities (trisomies, deletions, translocations)
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