SPRI | Physician's Guide To The Diagnosis, Treatment, And Follow-Up Of Inherited Metabolic Diseases (2014 EN)

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  1. Kanka

    Kanka Well-Known Member Loyal User

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    Author: Nenad Blau (Editor), Marinus Duran (Editor), K. Michael Gibson (Editor), Carlo Dionisi-Vici (Editor)
    Full Title: Physician's Guide To The Diagnosis, Treatment, And Follow-Up Of Inherited Metabolic Diseases
    Publisher: Springer; 2014 edition (March 8, 2014)
    Year: 2014
    ISBN-13: 9783642403378 (978-3-642-40337-8), 9783642403361 (978-3-642-40336-1), 9783662506882 (978-3-662-50688-2)
    ISBN-10: 3642403379, 3642403360, 3662506882
    Pages: 867
    Language: English
    Genre: Medicine: Internal Medicine
    File type: PDF (True)
    Quality: 10/10
    Price: 119.59 €


    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.

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