Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Seiten
2016
|
1. Softcover reprint of the original 1st ed. 2014
Springer Berlin (Verlag)
978-3-662-50688-2 (ISBN)
Springer Berlin (Verlag)
978-3-662-50688-2 (ISBN)
This book serves as a comprehensive source on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. It offers a step-by-step guide to diagnosis and clearly describes treatment protocols and experimental therapies.
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician's Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician's Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Introductory Chapters.- Amino acids.- Organic acids.- Vitamins and neurotransmitter.- Energy metabolism.- Organelles.- Selected disorder.- Biochemical phenotypes of questionable clinical significance.- Profiles.
From the book reviews:
"It is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. ... much of the information is presented in tables which gives a good overview and makes the information easily readable. ... the book supplies clinicians and clinical biochemists with data that should facilitate the diagnosis and treatment of patients with inherited metabolic diseases." (Christian Staufner and Verena Peters, Journal of Inherited Metabolic Disease, Vol. 37, 2014)| Erscheinungsdatum | 03.08.2016 |
|---|---|
| Zusatzinfo | XLV, 867 p. 163 illus., 82 illus. in color. |
| Verlagsort | Berlin |
| Sprache | englisch |
| Maße | 210 x 279 mm |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie | |
| Schlagworte | biochemical genetics • biochemistry • disorder • Human genetics • inborn errors of metabolism • laboratory medicine • medical biochemistry • medical genetics • Medical laboratory testing and techniques • Medicine • Metabolic disease • metabolic diseases • Metabolism • Paediatric medicine • Pediatrics |
| ISBN-10 | 3-662-50688-2 / 3662506882 |
| ISBN-13 | 978-3-662-50688-2 / 9783662506882 |
| Zustand | Neuware |
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