Titre : | METABOLIC DISEASES, 1 : FOUNDATIONS OF CLINICAL MANAGEMENT, GENETICS, AND PATHOLOGY |
Autre titre: | LES MALADIES METABOLIQUES |
Auteurs : | ENID GILBERT-BARNESS ; LEWIS BARNESS |
Type de document : | Livre |
Editeur : | NATICK (USA) : EATON PUBLISHING, 2000 |
ISBN/ISSN/EAN : | 978-1-881299-11-0 |
Format : | 889 P. |
Langues: | Anglais |
Concepts : |
TROUBLE DU METABOLISME
DIAGNOSTIC DIAGNOSTIC GENETIQUE PERIODE PERINATALE METABOLISME DES PROTEINES ACIDE AMINE ACIDE GRAS METABOLISME DES LIPIDES METABOLISME DES MINERAUX COLLAGENE TROUBLE ENDOCRINIEN GLANDE ENDOCRINE MYOPATHIE TROUBLE SANGUIN CALCIUM THERAPIE GENIQUE |
Résumé : | In writing this book, we have attempted to compile in a comprehensive and concise text the clinical symptomatology, cardinal manifestations, laboratory diagnostic features, molecular aspects, and pathologic diagnostic features of metabolic diseases. Chapters cover the major categories of disorders of metabolism. In addition, chapters on the diagnostic approach, prenatal diagnosis, and gene therapy are included. Pertinent information presented in tables that highlight the text, and illustrations, many in color, are liberally used in all chapters. Most of the tables include McKusick numbers, a six-digit number used in McKusick's Catalog of Genetic Diseases: Mendelian Inheritance in Man, for which there is a computerized version [Online Mendelian Inheritance in Man (OMIM)], available 24-hours-a-day for consultation and references. The emphasis throughout this text is on the clinical and pathologic expression of disease. Our primary aim, in conforming with the Osier tradition, is to present clinical phenomena we have observed along with the underlying physiologic and pathologic changes with regard to pertinent current discoveries in metabolism, including developments in molecular genetics. Our hope for this book is to present contemporary information in an easy-to-read manner with clinical, genetic, and molecular information and pathologic correlation. This text presents new information of importance to the student, resident, fellow, and practicing physician and should be a ready reference source. We hope that it will prove useful to clinicians, pediatricians, internists, pathologists, geneticists, and all physicians and health science professionals interested in metabolic disease. |
Exemplaires (1)
Cote | Support | Section | Disponibilité |
---|---|---|---|
616.39 GIL (T.1) | Livre | AA - Alimentation, santé et agroindustries | Disponible |