Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

This second edition of the Physicians Guide is a comprehensive resource for diagnosing, treating, and following up on metabolic diseases. It includes over 1200 conditions, clinical findings, pathological values, and guidance on biochemical genetic testing. The authors are acknowledged experts, and the book is a valuable desk reference for clinicians and laboratory personnel.

Format: Hardback
Length: 1534 pages
Publication date: 22 February 2022
Publisher: Springer Nature Switzerland AG

This second edition, revised and expanded, stands as a singular repository of knowledge regarding the diagnosis, treatment, and ongoing care of metabolic disorders. The clinical and laboratory characteristics of rare metabolic conditions can be perplexing for both clinicians and laboratory personnel, as reference laboratory data is scattered, and clinical descriptions can be ambiguous. To address this, the Physicians Guide, featuring an additional over 600 diseases, organizes 1200 conditions based on their type, affected organ system (e.g., liver, kidney, etc.), or phenotype (e.g., neurological, hepatic, etc.). It encompasses pertinent clinical findings and underscores the diagnostic significance of metabolites. Furthermore, guidance on appropriate biochemical genetic testing is offered, along with descriptions of established experimental therapeutic protocols, accompanied by recommendations for follow-up and monitoring. The authors, recognized experts in their field, have authored this book, which serves as an invaluable desktop reference for all individuals engaged in the management of inherited metabolic diseases.

Chapter 73 is accessible for free online through a Creative Commons Attribution 4.0 International License by following the link: link.springer.com.

Weight: 4800g
Dimension: 279 x 210 (mm)
ISBN-13: 9783030677268
Edition number: 2nd ed. 2022