Inherited Metabolic Diseases: A Clinical Approach

Product Description

The ? eld of inherited metabolic diseases has changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening but increasingly treatable illness. Unchanged is the orphan nature of these disorders with mostly relatively nonspeci? c initial clinical manifestations. The patient does not come to the physician with the diagnosis; the patient comes with a history, symptoms, and signs. This book starts with those and proceeds lo- cally through algorithms from questions to answers. Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. To utilize as broad an experience as possible, its concept has been extended from a pocket-size book written jointly by ? ve colleagues to a textbook combining the experience of over 20 expert metabolic physicians. It is now imbedded in the environment of Springer Pediatric Metabolic Medicine in addition to the disease-based approach in Inborn Metabolic Diseases edited by John Fernandes and colleagues as well the series edited by Nenad Blau and colleagues on speci? c biochemical diagnostics, laboratory methods, and treatment. A system and symptom-based approach to inherited metabolic diseases should help colleagues from different specialties to diagnose their patients and to come to an optimal program of therapy. For metabolic and genetic specialists, this book is designed as a quick reference for what may be (even for the specialist) infrequently encountered presentations. Heidelberg, Germany Georg F.

Review

From the reviews:
“The authors have written a reader friendly and instructive textbook which is divided into 5 parts. … Highly illustrated with many tables. … An updated, very useful text.” (Pediatric Endocrinology Reviews, Vol. 7 (3), March-April, 2010)
“This is the eighth edition of an intense but easy to read textbook of genetics with detailed explanations of the concepts and logic behind the science of genes and genomes. … Designed for undergraduate students, this book provides a concise and logical base for individuals who may pursue careers in genetics. … The authors are well recognized authorities in human genetics. … Congratulations to the authors for this unique textbook. The art of teaching genetics is well served by their contribution.” (Luis F. Escobar, Doody’s Review Service, February, 2012)