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

1. Auflage 2014
ISBN: 978-3-642-40337-8
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 867 Seiten, eBook

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.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Blau, Nenad

Duran, Marinus

Dionisi-Vici, Carlo

Gibson, K Michael

Dionisi Vici, Carlo

Thöny, Beat

Inhaltsverzeichnis

Introductory Chapters.- Amino acids.- Organic acids.- Vitamins and neurotransmitter.- Energy metabolism.- Organelles.- Selected disorder.- Biochemical phenotypes of questionable clinical significance.- Profiles.