This major new two volume reference provides a comprehensive scientific and clinical review of the metabolic diseases, including clinical symptomatology, cardinal manifestations, molecular genetics, pathology and laboratory diagnostic features. There are thorough chapters on the major categories of disorders of metabolism as well as on various diagnostic approaches, prenatal diagnosis, and gene therapy. Pertinent information is presented in tables that highlight the text and by many illustrations liberally used throughout. Most tables include the six-digit numbers used in McKusick's Catalog of Genetic Diseases: Mendelian Inheritance in Man.
The emphasis throughout this text is on clinical and pathologic expression of disease. The authors' primary aim, in conforming with the Osler tradition, is to present observed clinical phenomena along with the underlying physiologic and pathologic changes with regard to pertinent new discoveries in metabolism, including developments in molecular genetics.
This text presents important new information and should be a ready, useful reference source to the pediatrician, internist, pathologist, clinical geneticist, and other physicians and scientists interested in metabolic diseases.
