Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Opis
A unique source of reference information for both laboratory and clinical practice
Highlights clinical findings, age-related pathological values for diagnostic metabolites, and the role of biochemical genetic testing
Offers step-by-step algorithms for diagnosis
Outlines established and experimental therapies
Complements other major texts in the field
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.
Informacje dodatkowe
Książki
- Rok wydania 2014
- Autor Nenad Blau Marinus Duran K Michael Gibson Carlo Dionisi-Vici
- Wydanie 1
- Liczba stron 867
- Liczba ilustracji 81 b/w illustrations, 82 illustrations in colour
- ISBN 978-3-642-40336-1
- Oprawa Miękka
