Bookedited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
Summary: "In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others"--Publisher's description.
Contents:
Disorders of the body mass
Genetic lipodystrophies
Amino acid metabolism
Disorders of carbohydrate metabolism
Disorders affecting glycosylation
Purine and pyrimidine metabolism
Lipoprotein and lipid metabolism
Organic acidemias and disorders of fatty acid oxidation
Vitamin d metabolism or action
Inherited porphyrias
Inherited disorders of human copper metabolism
Iron metabolism and related disorders
Mucopolysaccharidoses
Lysosomal storage disorders
Peroxisomal disorders
Genetics of mitochondrial respiratory chain disease.