Description:

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
* Useful algorithms for diagnosing disorders of mitochondrial function and of mendelianclinical phenotypes

Contents:

I. INTRODUCTION
II. PERSPECTIVES
III. GENERAL THEMES
IV. CANCER
V. CHROMOSOMES
VI. DIAGNOSTIC APPROACHES
VII. CARBOHYDRATES
VIII. AMINO ACIDS
IX. ORGANIC ACIDS
X. DISORDERS OF MITOCHONDRIAL FUNCTION
XI. PURINES AND PYRIMIDINES
XII. LIPIDS
XIII. PORPHYRINS
XIV. METALS
XV. PEROXISOMES
XVI. LYSOSOMAL DISORDERS
XVII. VITAMINS
XVIII. HORMONES
XIX. BLOOD
XX. IMMUNE AND DEFENSE SYSTEMS
XXI. MEMBRANE TRANSPORT DISORDERS
XXII. CONNECTIVE TISSUE
XXIII. CARDIOVASCULAR SYSTEM
XXIV. KIDNEY
XXV. MUSCLE
XXVI. LUNG
XXVII. SKIN
XXVIII. NEUROGENETICS
XXIX. EYE
XXX. MULTISYSTEM INBORN ERRORS OF DEVELOPMENT