Clinical Guide to Inherited Metabolic Diseases; ed.2

Clinical Guide to Inherited Metabolic Diseases; ed.2
Clarke J.T.
Cambridge University Press; 2002; pp.306; ISBN: 0521890764

ISBN-13: 9780521890762

To buy:

http://www.amazon.com/exec/obidos/ASIN/0521890764/
http://search.barnesandnoble.com/booksearc...90764&pdf=y&z=y

Review
Review of the first edition '... should be read thoroughly by any pediatric resident, genetic resident, or clinical fellow caring for patients with metabolic disorders.' American Journal of Medical Genetics'The writing is lucid, direct and salted with personal observations. Clarke's teaching skills shine forth from each page ... It succeeds admirably, effectively demystifying the anxiety-provoking world of inherited biochemical illness.' Canadian Medical Association Journal'If your clinical work brings you into contact with patients who may be hiding an inherited metabolic disease, Clarke's guide is for you. Clearly it will be of greatest help to paediatricians.' Journal of the Royal Society of Medicine

Book Description
This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: 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.

Rating
4 Stars! from Doody

From The Critics
Doody Review Services

Reviewer: Michael Raff, MD (University of Washington School of Medicine)
Description: This new edition of Dr. Clarke's well-regarded 1996 book successfully maintains the practical, lucid style that characterizes its predecessor. It continues more than ever to render metabolic disorders accessible by distilling relevant information into a manageable small volume.
Purpose: This book is intended for all clinicians who care for individuals who have, or may have, inherited metabolic disorders.
Audience: Its symptoms-oriented organization ensures that residents in pediatrics, family medicine, and genetics will find it worth their spare time. It is equally valuable for the busy practitioner with a challenging patient. A few minutes with the relevant chapter should allow a quick formulation of the differential diagnosis and investigative plan. It also succeeds in being sufficiently interesting and readable that physicians in all stages of their careers will find it worthy of quiet review after hours. Whether as a component of studying for board examinations or simply to increase one's comfort in this potentially intimidating area, Dr. Clarke's expertise and eloquence should be welcomed.
Features: The 10 chapters of this approximately 250-page book are logically divided. After an introductory chapter, chapters two through seven are for the most part organized by initial clinical symptomatology. The exceptions to this are chapters three and seven which address, respectively, metabolic acidosis (which some might consider a "symptom" in the context of metabolic disease) and the newborn with acute metabolic illness (the most dramatic type of clinical presentation in this field). These chapters are easy to read, are thorough yet concise, and are highly recommended to every trainee and practitioner of pediatrics and medical genetics. The remaining three chapters deal with the clinical laboratory and therapeutic interventions. These chapters are equally enjoyable, though slightly less practical for on-the-job reference.
Assessment: This book has been appropriately revised and updated since its first edition. The symptoms-oriented chapters have more clinical, radiological, and laboratory illustrations. The laboratory and treatment chapters have been completely updated to reflect new technologies and increased knowledge. This book is unsurpassed for a straightforward comprehensible review on the approach to the patient with a metabolic disorder. For a concise outline of laboratory investigations and interpretation of results, another book of value is Inherited Metabolic Diseases by Hoffmann et al. (Lippincott Williams & Wilkins, 2002):which is the other useful handbook in the field of metabolic disorders. The Hoffmann book is more detailed in content but less flowing in style. In sum, Clarke's book is of great value to the clinician and should be required reading in pediatric and medical genetics training programs.

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