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Overview
Here’s the complete overview of A Clinical Guide to Inherited Metabolic Diseases PDF:
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.
Features of A Clinical Guide to Inherited Metabolic Diseases PDF
Here’s a quick overview of the essential features of this book:
Table of Contents
Below is the complete table of contents offered inside A Clinical Guide to Inherited Metabolic Diseases PDF:
| Number | Topic | Pages |
|---|---|---|
| Preface | Preface | xiii |
| 1 | General principles | 1 |
| 2 | Neurologic syndrome | 18 |
| 3 | Metabolic acidosis | 65 |
| 4 | Hepatic syndrome | 92 |
| 5 | Cardiac syndromes | 118 |
| 6 | Storage syndrome and dysmorphism | 134 |
| 7 | Acute metabolic illness in the newborn | 169 |
| 8 | Newborn screening | 198 |
| 9 | Laboratory investigation | 209 |
| 10 | Treatment | 255 |
| Appendices | Selection of Internet websites related to inherited metabolic disorders, either for health professionals or patients and their families | 274 |
| Appendices | A selection of locus-specific mutation databases | 277 |
| Index | Index |
A Clinical Guide to Inherited Metabolic Diseases PDF Free Download
Alright, now in this part of the article, you will be able to access the free PDF download of A Clinical Guide to Inherited Metabolic Diseases PDF using our direct links mentioned at the end of this article. We have uploaded a genuine PDF ebook copy of this book to our online file repository so that you can enjoy a blazing-fast and safe downloading experience.
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