Charles R. Scriver Knihy

This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis. It is a well-illustrated text that is organized around the clinical presentation of the disease. Biochemical and metabolic concepts are presented in a clinically relevant context. It functions to complement more traditional textbooks which are organized biochemically. The book serves as an entrance to the discipline, to help non-expert physicians and advanced medical trainees to overcome the intimidation they are accustomed to experiencing when dealing with metabolic problems. This new edition has been expanded to include substantially more on mitochondrial diseases, new imaging techniques, and new techniques for screening and diagnosis.

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Authored by the most respected clinicians and researchers in the field, THE METABOLIC AND MOLECULAR BASES OF INHERITED DISEASE, 8th Edition, is the undisputed authority on genetic inheritance. In its pages, you can explore what is currently known about every inherited disease known to exist. Here you can review genetic perspectives, basic concepts, how inherited diseases occur, diagnostic approaches, and the effects of hormones. You can research specific syndromes, or read about specific body systems affected by disease. No other reference even comes close to its authority and comprehensive scope!* More than 50% totally new text and topics, with the remaining text totally written or updated to include the latest advances* Expanded coverage of cancer - from six chapters to more than three dozen - advances your knowledge of this explosive disease state and cancer genetics* New chapter on history of the inborn errors of metabolism* New chapter on the impact of inherited disease on health* New chapter on inherited diseases' response to treatment* New chapters relating to newly cloned genes* New insight on genetics' contribution to the understanding of complex traits and birth defects* Expanded coverage of neurogenetics* New information on comparative genomics and its relationship to the genome projects* New sections and chapters on disorders of human somatic development