Foundations of Inherited Metabolic Disorders

Twelve chapters covering amino acid, fatty acid, carbohydrate, lysosomal, peroxisomal, and mitochondrial disorders.

Hundreds of fill-in-the-blank questions with answer keys, dozens of diagrams and tables, and eight appendices including newborn screening, lab interpretation, and high-yield clinical associations.

Written by Daniel Piqué, clinical geneticist and Director of StudyRare.